SNP Links for Protein (Select 767956824) - SNP

Links from Protein

Items: 1 to 20 of 927

<< First< Prev

Page of 47

Next >Last >>

Select item 14908847911.

rs1490884791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:109057242 (GRCh38)
9:111819522 (GRCh37)
Canonical SPDI:: NC_000009.12:109057241:G:C
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.109057242G>C, NC_000009.11:g.111819522G>C, NM_032012.4:c.1803C>G, NM_032012.3:c.1803C>G, XM_011518446.3:c.1800C>G, XM_011518446.2:c.1800C>G, XM_011518446.1:c.1800C>G, XM_011518449.3:c.1686C>G, XM_011518449.2:c.1686C>G, XM_011518449.1:c.1686C>G, XM_011518452.3:c.1569C>G, XM_011518452.2:c.1569C>G, XM_011518452.1:c.1569C>G, XM_011518447.2:c.1779C>G, XM_011518447.1:c.1779C>G, XM_017014571.2:c.1776C>G, XM_017014571.1:c.1776C>G, XM_011518451.2:c.1674C>G, XM_011518451.1:c.1674C>G, XM_017014572.2:c.1545C>G, XM_017014572.1:c.1545C>G, NM_001099734.1:c.1779C>G, XM_047423139.1:c.1671C>G, XM_047423140.1:c.1662C>G, XM_047423142.1:c.1440C>G, NP_114401.2:p.Asp601Glu, XP_011516748.1:p.Asp600Glu, XP_011516751.1:p.Asp562Glu, XP_011516754.1:p.Asp523Glu, XP_011516749.1:p.Asp593Glu, XP_016870060.1:p.Asp592Glu, XP_011516753.1:p.Asp558Glu, XP_016870061.1:p.Asp515Glu, XP_047279095.1:p.Asp557Glu, XP_047279096.1:p.Asp554Glu, XP_047279098.1:p.Asp480Glu

Select item 14899733232.

rs1489973323 [Homo sapiens]

Variant type:: DEL
Alleles:: TTAATAGATAAAATAGTGTGGT>- [Show Flanks]
Chromosome:: 9:109050395 (GRCh38)
9:111812675 (GRCh37)
Canonical SPDI:: NC_000009.12:109050394:TTAATAGATAAAATAGTGTGGT:
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.109050395_109050416del, NC_000009.11:g.111812675_111812696del, NM_032012.4:c.1990_2011del, NM_032012.3:c.1990_2011del, XM_011518446.3:c.1987_2008del, XM_011518446.2:c.1987_2008del, XM_011518446.1:c.1987_2008del, XM_011518449.3:c.1873_1894del, XM_011518449.2:c.1873_1894del, XM_011518449.1:c.1873_1894del, XM_011518452.3:c.1756_1777del, XM_011518452.2:c.1756_1777del, XM_011518452.1:c.1756_1777del, XM_011518447.2:c.1966_1987del, XM_011518447.1:c.1966_1987del, XM_017014571.2:c.1963_1984del, XM_017014571.1:c.1963_1984del, XM_011518451.2:c.1861_1882del, XM_011518451.1:c.1861_1882del, XM_017014572.2:c.1732_1753del, XM_017014572.1:c.1732_1753del, NM_001099734.1:c.1966_1987del, XM_047423139.1:c.1858_1879del, XM_047423140.1:c.1849_1870del, XM_047423142.1:c.1627_1648del, NP_114401.2:p.Thr664fs, XP_011516748.1:p.Thr663fs, XP_011516751.1:p.Thr625fs, XP_011516754.1:p.Thr586fs, XP_011516749.1:p.Thr656fs, XP_016870060.1:p.Thr655fs, XP_011516753.1:p.Thr621fs, XP_016870061.1:p.Thr578fs, XP_047279095.1:p.Thr620fs, XP_047279096.1:p.Thr617fs, XP_047279098.1:p.Thr543fs

Select item 14890263773.

rs1489026377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:109036253 (GRCh38)
9:111798533 (GRCh37)
Canonical SPDI:: NC_000009.12:109036252:G:A
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.109036253G>A, NC_000009.11:g.111798533G>A, NM_032012.4:c.2352C>T, NM_032012.3:c.2352C>T, XM_011518446.3:c.2349C>T, XM_011518446.2:c.2349C>T, XM_011518446.1:c.2349C>T, XM_011518449.3:c.2235C>T, XM_011518449.2:c.2235C>T, XM_011518449.1:c.2235C>T, XM_011518452.3:c.2118C>T, XM_011518452.2:c.2118C>T, XM_011518452.1:c.2118C>T, XM_011518447.2:c.2328C>T, XM_011518447.1:c.2328C>T, XM_017014571.2:c.2325C>T, XM_017014571.1:c.2325C>T, XM_011518451.2:c.2223C>T, XM_011518451.1:c.2223C>T, XM_017014572.2:c.2094C>T, XM_017014572.1:c.2094C>T, NM_001099734.1:c.2328C>T, XM_047423139.1:c.2220C>T, XM_047423140.1:c.2211C>T, XM_047423142.1:c.1989C>T

Select item 14882914674.

rs1488291467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:109119768 (GRCh38)
9:111882048 (GRCh37)
Canonical SPDI:: NC_000009.12:109119767:G:A
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.109119768G>A, NC_000009.11:g.111882048G>A, NM_032012.4:c.146C>T, NM_032012.3:c.146C>T, XM_011518446.3:c.146C>T, XM_011518446.2:c.146C>T, XM_011518446.1:c.146C>T, XM_011518449.3:c.146C>T, XM_011518449.2:c.146C>T, XM_011518449.1:c.146C>T, XM_011518452.3:c.146C>T, XM_011518452.2:c.146C>T, XM_011518452.1:c.146C>T, XM_011518447.2:c.146C>T, XM_011518447.1:c.146C>T, XM_017014571.2:c.146C>T, XM_017014571.1:c.146C>T, XM_011518451.2:c.146C>T, XM_011518451.1:c.146C>T, XM_017014572.2:c.146C>T, XM_017014572.1:c.146C>T, NM_001099734.1:c.146C>T, XM_047423139.1:c.146C>T, XM_047423140.1:c.146C>T, XM_047423142.1:c.146C>T, NP_114401.2:p.Pro49Leu, XP_011516748.1:p.Pro49Leu, XP_011516751.1:p.Pro49Leu, XP_011516754.1:p.Pro49Leu, XP_011516749.1:p.Pro49Leu, XP_016870060.1:p.Pro49Leu, XP_011516753.1:p.Pro49Leu, XP_016870061.1:p.Pro49Leu, XP_047279095.1:p.Pro49Leu, XP_047279096.1:p.Pro49Leu, XP_047279098.1:p.Pro49Leu

Select item 14845086595.

rs1484508659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:109119527 (GRCh38)
9:111881807 (GRCh37)
Canonical SPDI:: NC_000009.12:109119526:G:A
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.109119527G>A, NC_000009.11:g.111881807G>A, NM_032012.4:c.387C>T, NM_032012.3:c.387C>T, XM_011518446.3:c.387C>T, XM_011518446.2:c.387C>T, XM_011518446.1:c.387C>T, XM_011518449.3:c.387C>T, XM_011518449.2:c.387C>T, XM_011518449.1:c.387C>T, XM_011518452.3:c.387C>T, XM_011518452.2:c.387C>T, XM_011518452.1:c.387C>T, XM_011518447.2:c.387C>T, XM_011518447.1:c.387C>T, XM_017014571.2:c.387C>T, XM_017014571.1:c.387C>T, XM_011518451.2:c.387C>T, XM_011518451.1:c.387C>T, XM_017014572.2:c.387C>T, XM_017014572.1:c.387C>T, NM_001099734.1:c.387C>T, XM_047423139.1:c.387C>T, XM_047423140.1:c.387C>T, XM_047423142.1:c.387C>T

Select item 14835360436.

rs1483536043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:109080848 (GRCh38)
9:111843128 (GRCh37)
Canonical SPDI:: NC_000009.12:109080847:C:T
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.109080848C>T, NC_000009.11:g.111843128C>T, NM_032012.4:c.1440G>A, NM_032012.3:c.1440G>A, XM_011518446.3:c.1437G>A, XM_011518446.2:c.1437G>A, XM_011518446.1:c.1437G>A, XM_011518449.3:c.1323G>A, XM_011518449.2:c.1323G>A, XM_011518449.1:c.1323G>A, XM_011518452.3:c.1206G>A, XM_011518452.2:c.1206G>A, XM_011518452.1:c.1206G>A, XM_011518447.2:c.1416G>A, XM_011518447.1:c.1416G>A, XM_017014571.2:c.1413G>A, XM_017014571.1:c.1413G>A, XM_017014572.2:c.1182G>A, XM_017014572.1:c.1182G>A, NM_001099734.1:c.1416G>A, XM_047423140.1:c.1299G>A

Select item 14825605637.

rs1482560563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:109087280 (GRCh38)
9:111849560 (GRCh37)
Canonical SPDI:: NC_000009.12:109087279:G:A
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.109087280G>A, NC_000009.11:g.111849560G>A, NM_032012.4:c.1213C>T, NM_032012.3:c.1213C>T, XM_011518446.3:c.1210C>T, XM_011518446.2:c.1210C>T, XM_011518446.1:c.1210C>T, XM_011518449.3:c.1096C>T, XM_011518449.2:c.1096C>T, XM_011518449.1:c.1096C>T, XM_011518452.3:c.979C>T, XM_011518452.2:c.979C>T, XM_011518452.1:c.979C>T, XM_011518447.2:c.1213C>T, XM_011518447.1:c.1213C>T, XM_017014571.2:c.1210C>T, XM_017014571.1:c.1210C>T, XM_011518451.2:c.1213C>T, XM_011518451.1:c.1213C>T, XM_017014572.2:c.979C>T, XM_017014572.1:c.979C>T, NM_001099734.1:c.1213C>T, XM_047423139.1:c.1210C>T, XM_047423140.1:c.1096C>T, XM_047423142.1:c.979C>T, NP_114401.2:p.His405Tyr, XP_011516748.1:p.His404Tyr, XP_011516751.1:p.His366Tyr, XP_011516754.1:p.His327Tyr, XP_011516749.1:p.His405Tyr, XP_016870060.1:p.His404Tyr, XP_011516753.1:p.His405Tyr, XP_016870061.1:p.His327Tyr, XP_047279095.1:p.His404Tyr, XP_047279096.1:p.His366Tyr, XP_047279098.1:p.His327Tyr

Select item 14813428198.

rs1481342819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:109119752 (GRCh38)
9:111882032 (GRCh37)
Canonical SPDI:: NC_000009.12:109119751:G:A
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.109119752G>A, NC_000009.11:g.111882032G>A, NM_032012.4:c.162C>T, NM_032012.3:c.162C>T, XM_011518446.3:c.162C>T, XM_011518446.2:c.162C>T, XM_011518446.1:c.162C>T, XM_011518449.3:c.162C>T, XM_011518449.2:c.162C>T, XM_011518449.1:c.162C>T, XM_011518452.3:c.162C>T, XM_011518452.2:c.162C>T, XM_011518452.1:c.162C>T, XM_011518447.2:c.162C>T, XM_011518447.1:c.162C>T, XM_017014571.2:c.162C>T, XM_017014571.1:c.162C>T, XM_011518451.2:c.162C>T, XM_011518451.1:c.162C>T, XM_017014572.2:c.162C>T, XM_017014572.1:c.162C>T, NM_001099734.1:c.162C>T, XM_047423139.1:c.162C>T, XM_047423140.1:c.162C>T, XM_047423142.1:c.162C>T

Select item 14812677329.

rs1481267732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:109108485 (GRCh38)
9:111870765 (GRCh37)
Canonical SPDI:: NC_000009.12:109108484:A:G
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.109108485A>G, NC_000009.11:g.111870765A>G, NM_032012.4:c.665T>C, NM_032012.3:c.665T>C, XM_011518446.3:c.665T>C, XM_011518446.2:c.665T>C, XM_011518446.1:c.665T>C, XM_011518449.3:c.665T>C, XM_011518449.2:c.665T>C, XM_011518449.1:c.665T>C, XM_011518452.3:c.665T>C, XM_011518452.2:c.665T>C, XM_011518452.1:c.665T>C, XM_011518447.2:c.665T>C, XM_011518447.1:c.665T>C, XM_017014571.2:c.665T>C, XM_017014571.1:c.665T>C, XM_011518451.2:c.665T>C, XM_011518451.1:c.665T>C, XM_017014572.2:c.665T>C, XM_017014572.1:c.665T>C, NM_001099734.1:c.665T>C, XM_047423139.1:c.665T>C, XM_047423140.1:c.665T>C, XM_047423142.1:c.665T>C, NP_114401.2:p.Ile222Thr, XP_011516748.1:p.Ile222Thr, XP_011516751.1:p.Ile222Thr, XP_011516754.1:p.Ile222Thr, XP_011516749.1:p.Ile222Thr, XP_016870060.1:p.Ile222Thr, XP_011516753.1:p.Ile222Thr, XP_016870061.1:p.Ile222Thr, XP_047279095.1:p.Ile222Thr, XP_047279096.1:p.Ile222Thr, XP_047279098.1:p.Ile222Thr

Select item 148060620610.

rs1480606206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:109108459 (GRCh38)
9:111870739 (GRCh37)
Canonical SPDI:: NC_000009.12:109108458:G:A,NC_000009.12:109108458:G:T
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000319/9 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.004107/12 (KOREAN)
HGVS:: NC_000009.12:g.109108459G>A, NC_000009.12:g.109108459G>T, NC_000009.11:g.111870739G>A, NC_000009.11:g.111870739G>T, NM_032012.4:c.691C>T, NM_032012.4:c.691C>A, NM_032012.3:c.691C>T, NM_032012.3:c.691C>A, XM_011518446.3:c.691C>T, XM_011518446.3:c.691C>A, XM_011518446.2:c.691C>T, XM_011518446.2:c.691C>A, XM_011518446.1:c.691C>T, XM_011518446.1:c.691C>A, XM_011518449.3:c.691C>T, XM_011518449.3:c.691C>A, XM_011518449.2:c.691C>T, XM_011518449.2:c.691C>A, XM_011518449.1:c.691C>T, XM_011518449.1:c.691C>A, XM_011518452.3:c.691C>T, XM_011518452.3:c.691C>A, XM_011518452.2:c.691C>T, XM_011518452.2:c.691C>A, XM_011518452.1:c.691C>T, XM_011518452.1:c.691C>A, XM_011518447.2:c.691C>T, XM_011518447.2:c.691C>A, XM_011518447.1:c.691C>T, XM_011518447.1:c.691C>A, XM_017014571.2:c.691C>T, XM_017014571.2:c.691C>A, XM_017014571.1:c.691C>T, XM_017014571.1:c.691C>A, XM_011518451.2:c.691C>T, XM_011518451.2:c.691C>A, XM_011518451.1:c.691C>T, XM_011518451.1:c.691C>A, XM_017014572.2:c.691C>T, XM_017014572.2:c.691C>A, XM_017014572.1:c.691C>T, XM_017014572.1:c.691C>A, NM_001099734.1:c.691C>T, NM_001099734.1:c.691C>A, XM_047423139.1:c.691C>T, XM_047423139.1:c.691C>A, XM_047423140.1:c.691C>T, XM_047423140.1:c.691C>A, XM_047423142.1:c.691C>T, XM_047423142.1:c.691C>A, NP_114401.2:p.His231Tyr, NP_114401.2:p.His231Asn, XP_011516748.1:p.His231Tyr, XP_011516748.1:p.His231Asn, XP_011516751.1:p.His231Tyr, XP_011516751.1:p.His231Asn, XP_011516754.1:p.His231Tyr, XP_011516754.1:p.His231Asn, XP_011516749.1:p.His231Tyr, XP_011516749.1:p.His231Asn, XP_016870060.1:p.His231Tyr, XP_016870060.1:p.His231Asn, XP_011516753.1:p.His231Tyr, XP_011516753.1:p.His231Asn, XP_016870061.1:p.His231Tyr, XP_016870061.1:p.His231Asn, XP_047279095.1:p.His231Tyr, XP_047279095.1:p.His231Asn, XP_047279096.1:p.His231Tyr, XP_047279096.1:p.His231Asn, XP_047279098.1:p.His231Tyr, XP_047279098.1:p.His231Asn

Select item 148052247311.

rs1480522473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:109033474 (GRCh38)
9:111795754 (GRCh37)
Canonical SPDI:: NC_000009.12:109033473:C:A
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.109033474C>A, NC_000009.11:g.111795754C>A, NM_032012.4:c.2427G>T, NM_032012.3:c.2427G>T, XM_011518446.3:c.2424G>T, XM_011518446.2:c.2424G>T, XM_011518446.1:c.2424G>T, XM_011518449.3:c.2310G>T, XM_011518449.2:c.2310G>T, XM_011518449.1:c.2310G>T, XM_011518452.3:c.2193G>T, XM_011518452.2:c.2193G>T, XM_011518452.1:c.2193G>T, XM_011518447.2:c.2403G>T, XM_011518447.1:c.2403G>T, XM_017014571.2:c.2400G>T, XM_017014571.1:c.2400G>T, XM_011518451.2:c.2298G>T, XM_011518451.1:c.2298G>T, XM_017014572.2:c.2169G>T, XM_017014572.1:c.2169G>T, NM_001099734.1:c.2403G>T, XM_047423139.1:c.2295G>T, XM_047423140.1:c.2286G>T, XM_047423142.1:c.2064G>T, NP_114401.2:p.Leu809Phe, XP_011516748.1:p.Leu808Phe, XP_011516751.1:p.Leu770Phe, XP_011516754.1:p.Leu731Phe, XP_011516749.1:p.Leu801Phe, XP_016870060.1:p.Leu800Phe, XP_011516753.1:p.Leu766Phe, XP_016870061.1:p.Leu723Phe, XP_047279095.1:p.Leu765Phe, XP_047279096.1:p.Leu762Phe, XP_047279098.1:p.Leu688Phe

Select item 148049280312.

rs1480492803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:109050358 (GRCh38)
9:111812638 (GRCh37)
Canonical SPDI:: NC_000009.12:109050357:A:G
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000076/19 (GnomAD_exomes)
G=0.000178/25 (GnomAD)
G=0.000208/55 (TOPMED)
HGVS:: NC_000009.12:g.109050358A>G, NC_000009.11:g.111812638A>G, NM_032012.4:c.2048T>C, NM_032012.3:c.2048T>C, XM_011518446.3:c.2045T>C, XM_011518446.2:c.2045T>C, XM_011518446.1:c.2045T>C, XM_011518449.3:c.1931T>C, XM_011518449.2:c.1931T>C, XM_011518449.1:c.1931T>C, XM_011518452.3:c.1814T>C, XM_011518452.2:c.1814T>C, XM_011518452.1:c.1814T>C, XM_011518447.2:c.2024T>C, XM_011518447.1:c.2024T>C, XM_017014571.2:c.2021T>C, XM_017014571.1:c.2021T>C, XM_011518451.2:c.1919T>C, XM_011518451.1:c.1919T>C, XM_017014572.2:c.1790T>C, XM_017014572.1:c.1790T>C, NM_001099734.1:c.2024T>C, XM_047423139.1:c.1916T>C, XM_047423140.1:c.1907T>C, XM_047423142.1:c.1685T>C, NP_114401.2:p.Val683Ala, XP_011516748.1:p.Val682Ala, XP_011516751.1:p.Val644Ala, XP_011516754.1:p.Val605Ala, XP_011516749.1:p.Val675Ala, XP_016870060.1:p.Val674Ala, XP_011516753.1:p.Val640Ala, XP_016870061.1:p.Val597Ala, XP_047279095.1:p.Val639Ala, XP_047279096.1:p.Val636Ala, XP_047279098.1:p.Val562Ala

Select item 147753474913.

rs1477534749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:109119448 (GRCh38)
9:111881728 (GRCh37)
Canonical SPDI:: NC_000009.12:109119447:C:A
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.109119448C>A, NC_000009.11:g.111881728C>A, NM_032012.4:c.466G>T, NM_032012.3:c.466G>T, XM_011518446.3:c.466G>T, XM_011518446.2:c.466G>T, XM_011518446.1:c.466G>T, XM_011518449.3:c.466G>T, XM_011518449.2:c.466G>T, XM_011518449.1:c.466G>T, XM_011518452.3:c.466G>T, XM_011518452.2:c.466G>T, XM_011518452.1:c.466G>T, XM_011518447.2:c.466G>T, XM_011518447.1:c.466G>T, XM_017014571.2:c.466G>T, XM_017014571.1:c.466G>T, XM_011518451.2:c.466G>T, XM_011518451.1:c.466G>T, XM_017014572.2:c.466G>T, XM_017014572.1:c.466G>T, NM_001099734.1:c.466G>T, XM_047423139.1:c.466G>T, XM_047423140.1:c.466G>T, XM_047423142.1:c.466G>T, NP_114401.2:p.Gly156Cys, XP_011516748.1:p.Gly156Cys, XP_011516751.1:p.Gly156Cys, XP_011516754.1:p.Gly156Cys, XP_011516749.1:p.Gly156Cys, XP_016870060.1:p.Gly156Cys, XP_011516753.1:p.Gly156Cys, XP_016870061.1:p.Gly156Cys, XP_047279095.1:p.Gly156Cys, XP_047279096.1:p.Gly156Cys, XP_047279098.1:p.Gly156Cys

Select item 147576077414.

rs1475760774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:109119335 (GRCh38)
9:111881615 (GRCh37)
Canonical SPDI:: NC_000009.12:109119334:C:G
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000034/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.109119335C>G, NC_000009.11:g.111881615C>G, NM_032012.4:c.579G>C, NM_032012.3:c.579G>C, XM_011518446.3:c.579G>C, XM_011518446.2:c.579G>C, XM_011518446.1:c.579G>C, XM_011518449.3:c.579G>C, XM_011518449.2:c.579G>C, XM_011518449.1:c.579G>C, XM_011518452.3:c.579G>C, XM_011518452.2:c.579G>C, XM_011518452.1:c.579G>C, XM_011518447.2:c.579G>C, XM_011518447.1:c.579G>C, XM_017014571.2:c.579G>C, XM_017014571.1:c.579G>C, XM_011518451.2:c.579G>C, XM_011518451.1:c.579G>C, XM_017014572.2:c.579G>C, XM_017014572.1:c.579G>C, NM_001099734.1:c.579G>C, XM_047423139.1:c.579G>C, XM_047423140.1:c.579G>C, XM_047423142.1:c.579G>C, NP_114401.2:p.Trp193Cys, XP_011516748.1:p.Trp193Cys, XP_011516751.1:p.Trp193Cys, XP_011516754.1:p.Trp193Cys, XP_011516749.1:p.Trp193Cys, XP_016870060.1:p.Trp193Cys, XP_011516753.1:p.Trp193Cys, XP_016870061.1:p.Trp193Cys, XP_047279095.1:p.Trp193Cys, XP_047279096.1:p.Trp193Cys, XP_047279098.1:p.Trp193Cys

Select item 147502747215.

rs1475027472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:109033345 (GRCh38)
9:111795625 (GRCh37)
Canonical SPDI:: NC_000009.12:109033344:G:A
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.109033345G>A, NC_000009.11:g.111795625G>A, NM_032012.4:c.2556C>T, NM_032012.3:c.2556C>T, XM_011518446.3:c.2553C>T, XM_011518446.2:c.2553C>T, XM_011518446.1:c.2553C>T, XM_011518449.3:c.2439C>T, XM_011518449.2:c.2439C>T, XM_011518449.1:c.2439C>T, XM_011518452.3:c.2322C>T, XM_011518452.2:c.2322C>T, XM_011518452.1:c.2322C>T, XM_011518447.2:c.2532C>T, XM_011518447.1:c.2532C>T, XM_017014571.2:c.2529C>T, XM_017014571.1:c.2529C>T, XM_011518451.2:c.2427C>T, XM_011518451.1:c.2427C>T, XM_017014572.2:c.2298C>T, XM_017014572.1:c.2298C>T, NM_001099734.1:c.2532C>T, XM_047423139.1:c.2424C>T, XM_047423140.1:c.2415C>T, XM_047423142.1:c.2193C>T

Select item 147454834216.

rs1474548342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:109119546 (GRCh38)
9:111881826 (GRCh37)
Canonical SPDI:: NC_000009.12:109119545:G:A,NC_000009.12:109119545:G:T
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.109119546G>A, NC_000009.12:g.109119546G>T, NC_000009.11:g.111881826G>A, NC_000009.11:g.111881826G>T, NM_032012.4:c.368C>T, NM_032012.4:c.368C>A, NM_032012.3:c.368C>T, NM_032012.3:c.368C>A, XM_011518446.3:c.368C>T, XM_011518446.3:c.368C>A, XM_011518446.2:c.368C>T, XM_011518446.2:c.368C>A, XM_011518446.1:c.368C>T, XM_011518446.1:c.368C>A, XM_011518449.3:c.368C>T, XM_011518449.3:c.368C>A, XM_011518449.2:c.368C>T, XM_011518449.2:c.368C>A, XM_011518449.1:c.368C>T, XM_011518449.1:c.368C>A, XM_011518452.3:c.368C>T, XM_011518452.3:c.368C>A, XM_011518452.2:c.368C>T, XM_011518452.2:c.368C>A, XM_011518452.1:c.368C>T, XM_011518452.1:c.368C>A, XM_011518447.2:c.368C>T, XM_011518447.2:c.368C>A, XM_011518447.1:c.368C>T, XM_011518447.1:c.368C>A, XM_017014571.2:c.368C>T, XM_017014571.2:c.368C>A, XM_017014571.1:c.368C>T, XM_017014571.1:c.368C>A, XM_011518451.2:c.368C>T, XM_011518451.2:c.368C>A, XM_011518451.1:c.368C>T, XM_011518451.1:c.368C>A, XM_017014572.2:c.368C>T, XM_017014572.2:c.368C>A, XM_017014572.1:c.368C>T, XM_017014572.1:c.368C>A, NM_001099734.1:c.368C>T, NM_001099734.1:c.368C>A, XM_047423139.1:c.368C>T, XM_047423139.1:c.368C>A, XM_047423140.1:c.368C>T, XM_047423140.1:c.368C>A, XM_047423142.1:c.368C>T, XM_047423142.1:c.368C>A, NP_114401.2:p.Ala123Val, NP_114401.2:p.Ala123Glu, XP_011516748.1:p.Ala123Val, XP_011516748.1:p.Ala123Glu, XP_011516751.1:p.Ala123Val, XP_011516751.1:p.Ala123Glu, XP_011516754.1:p.Ala123Val, XP_011516754.1:p.Ala123Glu, XP_011516749.1:p.Ala123Val, XP_011516749.1:p.Ala123Glu, XP_016870060.1:p.Ala123Val, XP_016870060.1:p.Ala123Glu, XP_011516753.1:p.Ala123Val, XP_011516753.1:p.Ala123Glu, XP_016870061.1:p.Ala123Val, XP_016870061.1:p.Ala123Glu, XP_047279095.1:p.Ala123Val, XP_047279095.1:p.Ala123Glu, XP_047279096.1:p.Ala123Val, XP_047279096.1:p.Ala123Glu, XP_047279098.1:p.Ala123Val, XP_047279098.1:p.Ala123Glu

Select item 147181356517.

rs1471813565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:109106509 (GRCh38)
9:111868789 (GRCh37)
Canonical SPDI:: NC_000009.12:109106508:A:C
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.109106509A>C, NC_000009.11:g.111868789A>C, NM_032012.4:c.798T>G, NM_032012.3:c.798T>G, XM_011518446.3:c.798T>G, XM_011518446.2:c.798T>G, XM_011518446.1:c.798T>G, XM_011518449.3:c.798T>G, XM_011518449.2:c.798T>G, XM_011518449.1:c.798T>G, XM_011518452.3:c.798T>G, XM_011518452.2:c.798T>G, XM_011518452.1:c.798T>G, XM_011518447.2:c.798T>G, XM_011518447.1:c.798T>G, XM_017014571.2:c.798T>G, XM_017014571.1:c.798T>G, XM_011518451.2:c.798T>G, XM_011518451.1:c.798T>G, XM_017014572.2:c.798T>G, XM_017014572.1:c.798T>G, NM_001099734.1:c.798T>G, XM_047423139.1:c.798T>G, XM_047423140.1:c.798T>G, XM_047423142.1:c.798T>G

Select item 147129515918.

rs1471295159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:109085997 (GRCh38)
9:111848277 (GRCh37)
Canonical SPDI:: NC_000009.12:109085996:C:T
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.109085997C>T, NC_000009.11:g.111848277C>T, NM_032012.4:c.1344G>A, NM_032012.3:c.1344G>A, XM_011518446.3:c.1341G>A, XM_011518446.2:c.1341G>A, XM_011518446.1:c.1341G>A, XM_011518449.3:c.1227G>A, XM_011518449.2:c.1227G>A, XM_011518449.1:c.1227G>A, XM_011518452.3:c.1110G>A, XM_011518452.2:c.1110G>A, XM_011518452.1:c.1110G>A

Select item 147116637419.

rs1471166374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:109073381 (GRCh38)
9:111835661 (GRCh37)
Canonical SPDI:: NC_000009.12:109073380:G:A,NC_000009.12:109073380:G:C
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.109073381G>A, NC_000009.12:g.109073381G>C, NC_000009.11:g.111835661G>A, NC_000009.11:g.111835661G>C, NM_032012.4:c.1507C>T, NM_032012.4:c.1507C>G, NM_032012.3:c.1507C>T, NM_032012.3:c.1507C>G, XM_011518446.3:c.1504C>T, XM_011518446.3:c.1504C>G, XM_011518446.2:c.1504C>T, XM_011518446.2:c.1504C>G, XM_011518446.1:c.1504C>T, XM_011518446.1:c.1504C>G, XM_011518449.3:c.1390C>T, XM_011518449.3:c.1390C>G, XM_011518449.2:c.1390C>T, XM_011518449.2:c.1390C>G, XM_011518449.1:c.1390C>T, XM_011518449.1:c.1390C>G, XM_011518452.3:c.1273C>T, XM_011518452.3:c.1273C>G, XM_011518452.2:c.1273C>T, XM_011518452.2:c.1273C>G, XM_011518452.1:c.1273C>T, XM_011518452.1:c.1273C>G, XM_011518447.2:c.1483C>T, XM_011518447.2:c.1483C>G, XM_011518447.1:c.1483C>T, XM_011518447.1:c.1483C>G, XM_017014571.2:c.1480C>T, XM_017014571.2:c.1480C>G, XM_017014571.1:c.1480C>T, XM_017014571.1:c.1480C>G, XM_011518451.2:c.1378C>T, XM_011518451.2:c.1378C>G, XM_011518451.1:c.1378C>T, XM_011518451.1:c.1378C>G, XM_017014572.2:c.1249C>T, XM_017014572.2:c.1249C>G, XM_017014572.1:c.1249C>T, XM_017014572.1:c.1249C>G, NM_001099734.1:c.1483C>T, NM_001099734.1:c.1483C>G, XM_047423139.1:c.1375C>T, XM_047423139.1:c.1375C>G, XM_047423140.1:c.1366C>T, XM_047423140.1:c.1366C>G, XM_047423142.1:c.1144C>T, XM_047423142.1:c.1144C>G, NP_114401.2:p.Leu503Val, XP_011516748.1:p.Leu502Val, XP_011516751.1:p.Leu464Val, XP_011516754.1:p.Leu425Val, XP_011516749.1:p.Leu495Val, XP_016870060.1:p.Leu494Val, XP_011516753.1:p.Leu460Val, XP_016870061.1:p.Leu417Val, XP_047279095.1:p.Leu459Val, XP_047279096.1:p.Leu456Val, XP_047279098.1:p.Leu382Val

Select item 147109048320.

rs1471090483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:109091127 (GRCh38)
9:111853407 (GRCh37)
Canonical SPDI:: NC_000009.12:109091126:T:C
Gene:: TMEM245 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.109091127T>C, NC_000009.11:g.111853407T>C, NM_032012.4:c.945A>G, NM_032012.3:c.945A>G, XM_011518446.3:c.942A>G, XM_011518446.2:c.942A>G, XM_011518446.1:c.942A>G, XM_011518449.3:c.828A>G, XM_011518449.2:c.828A>G, XM_011518449.1:c.828A>G, XM_011518447.2:c.945A>G, XM_011518447.1:c.945A>G, XM_017014571.2:c.942A>G, XM_017014571.1:c.942A>G, XM_011518451.2:c.945A>G, XM_011518451.1:c.945A>G, NM_001099734.1:c.945A>G, XM_047423139.1:c.942A>G, XM_047423140.1:c.828A>G

<< First< Prev

Page of 47

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 927

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity