SNP Links for Protein (Select 24850109) - SNP

Links from Protein

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Select item 14913338671.

rs1491333867 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:218263508 (GRCh38)
2:219128231 (GRCh37)
Canonical SPDI:: NC_000002.12:218263507:CT:
Gene:: GPBAR1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000087/2 (ALFA)
-=0.000041/4 (ExAC)
-=0.000062/15 (GnomAD_exomes)
-=0.000068/18 (TOPMED)
-=0.000078/11 (GnomAD)
-=0.000259/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
HGVS:: NC_000002.12:g.218263508_218263509del, NC_000002.11:g.219128231_219128232del, NG_033036.1:g.11662_11663del, NM_170699.3:c.784_785del, NM_170699.2:c.784_785del, NM_001077191.2:c.784_785del, NM_001077191.1:c.784_785del, NM_001321950.2:c.784_785del, NM_001321950.1:c.784_785del, NM_001077194.2:c.784_785del, NM_001077194.1:c.784_785del, XM_011510743.1:c.784_785del, NP_733800.1:p.Leu262fs, NP_001070659.1:p.Leu262fs, NP_001308879.1:p.Leu262fs, NP_001070662.1:p.Leu262fs, XP_011509045.1:p.Leu262fs

Select item 14895145202.

rs1489514520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218262906 (GRCh38)
2:219127629 (GRCh37)
Canonical SPDI:: NC_000002.12:218262905:G:A
Gene:: GPBAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218262906G>A, NC_000002.11:g.219127629G>A, NG_033036.1:g.12265C>T, NM_170699.3:c.182G>A, NM_170699.2:c.182G>A, NM_001077191.2:c.182G>A, NM_001077191.1:c.182G>A, NM_001321950.2:c.182G>A, NM_001321950.1:c.182G>A, NM_001077194.2:c.182G>A, NM_001077194.1:c.182G>A, XM_011510743.1:c.182G>A, NP_733800.1:p.Gly61Glu, NP_001070659.1:p.Gly61Glu, NP_001308879.1:p.Gly61Glu, NP_001070662.1:p.Gly61Glu, XP_011509045.1:p.Gly61Glu

Select item 14857078473.

rs1485707847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218263418 (GRCh38)
2:219128141 (GRCh37)
Canonical SPDI:: NC_000002.12:218263417:C:A,NC_000002.12:218263417:C:T
Gene:: GPBAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.218263418C>A, NC_000002.12:g.218263418C>T, NC_000002.11:g.219128141C>A, NC_000002.11:g.219128141C>T, NG_033036.1:g.11753G>T, NG_033036.1:g.11753G>A, NM_170699.3:c.694C>A, NM_170699.3:c.694C>T, NM_170699.2:c.694C>A, NM_170699.2:c.694C>T, NM_001077191.2:c.694C>A, NM_001077191.2:c.694C>T, NM_001077191.1:c.694C>A, NM_001077191.1:c.694C>T, NM_001321950.2:c.694C>A, NM_001321950.2:c.694C>T, NM_001321950.1:c.694C>A, NM_001321950.1:c.694C>T, NM_001077194.2:c.694C>A, NM_001077194.2:c.694C>T, NM_001077194.1:c.694C>A, NM_001077194.1:c.694C>T, XM_011510743.1:c.694C>A, XM_011510743.1:c.694C>T, NP_733800.1:p.Leu232Ile, NP_733800.1:p.Leu232Phe, NP_001070659.1:p.Leu232Ile, NP_001070659.1:p.Leu232Phe, NP_001308879.1:p.Leu232Ile, NP_001308879.1:p.Leu232Phe, NP_001070662.1:p.Leu232Ile, NP_001070662.1:p.Leu232Phe, XP_011509045.1:p.Leu232Ile, XP_011509045.1:p.Leu232Phe

Select item 14843365844.

rs1484336584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:218263168 (GRCh38)
2:219127891 (GRCh37)
Canonical SPDI:: NC_000002.12:218263167:C:G,NC_000002.12:218263167:C:T
Gene:: GPBAR1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.218263168C>G, NC_000002.12:g.218263168C>T, NC_000002.11:g.219127891C>G, NC_000002.11:g.219127891C>T, NG_033036.1:g.12003G>C, NG_033036.1:g.12003G>A, NM_170699.3:c.444C>G, NM_170699.3:c.444C>T, NM_170699.2:c.444C>G, NM_170699.2:c.444C>T, NM_001077191.2:c.444C>G, NM_001077191.2:c.444C>T, NM_001077191.1:c.444C>G, NM_001077191.1:c.444C>T, NM_001321950.2:c.444C>G, NM_001321950.2:c.444C>T, NM_001321950.1:c.444C>G, NM_001321950.1:c.444C>T, NM_001077194.2:c.444C>G, NM_001077194.2:c.444C>T, NM_001077194.1:c.444C>G, NM_001077194.1:c.444C>T, XM_011510743.1:c.444C>G, XM_011510743.1:c.444C>T, NP_733800.1:p.His148Gln, NP_001070659.1:p.His148Gln, NP_001308879.1:p.His148Gln, NP_001070662.1:p.His148Gln, XP_011509045.1:p.His148Gln

Select item 14797381085.

rs1479738108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218263152 (GRCh38)
2:219127875 (GRCh37)
Canonical SPDI:: NC_000002.12:218263151:C:T
Gene:: GPBAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218263152C>T, NC_000002.11:g.219127875C>T, NG_033036.1:g.12019G>A, NM_170699.3:c.428C>T, NM_170699.2:c.428C>T, NM_001077191.2:c.428C>T, NM_001077191.1:c.428C>T, NM_001321950.2:c.428C>T, NM_001321950.1:c.428C>T, NM_001077194.2:c.428C>T, NM_001077194.1:c.428C>T, XM_011510743.1:c.428C>T, NP_733800.1:p.Ala143Val, NP_001070659.1:p.Ala143Val, NP_001308879.1:p.Ala143Val, NP_001070662.1:p.Ala143Val, XP_011509045.1:p.Ala143Val

Select item 14762649446.

rs1476264944 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:218263590 (GRCh38)
2:219128313 (GRCh37)
Canonical SPDI:: NC_000002.12:218263589:CCCCC:CCCC
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218263594del, NC_000002.11:g.219128317del, NG_033036.1:g.11581del, NM_170699.3:c.870del, NM_170699.2:c.870del, NM_001077191.2:c.870del, NM_001077191.1:c.870del, NM_001321950.2:c.870del, NM_001321950.1:c.870del, NM_001077194.2:c.870del, NM_001077194.1:c.870del, XM_011510743.1:c.870del, NP_733800.1:p.Trp291fs, NP_001070659.1:p.Trp291fs, NP_001308879.1:p.Trp291fs, NP_001070662.1:p.Trp291fs, XP_011509045.1:p.Trp291fs

Select item 14723268187.

rs1472326818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218262876 (GRCh38)
2:219127599 (GRCh37)
Canonical SPDI:: NC_000002.12:218262875:G:A
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.218262876G>A, NC_000002.11:g.219127599G>A, NG_033036.1:g.12295C>T, NM_170699.3:c.152G>A, NM_170699.2:c.152G>A, NM_001077191.2:c.152G>A, NM_001077191.1:c.152G>A, NM_001321950.2:c.152G>A, NM_001321950.1:c.152G>A, NM_001077194.2:c.152G>A, NM_001077194.1:c.152G>A, XM_011510743.1:c.152G>A, NP_733800.1:p.Gly51Asp, NP_001070659.1:p.Gly51Asp, NP_001308879.1:p.Gly51Asp, NP_001070662.1:p.Gly51Asp, XP_011509045.1:p.Gly51Asp

Select item 14722262988.

rs1472226298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:218263592 (GRCh38)
2:219128315 (GRCh37)
Canonical SPDI:: NC_000002.12:218263591:C:A,NC_000002.12:218263591:C:G,NC_000002.12:218263591:C:T
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218263592C>A, NC_000002.12:g.218263592C>G, NC_000002.12:g.218263592C>T, NC_000002.11:g.219128315C>A, NC_000002.11:g.219128315C>G, NC_000002.11:g.219128315C>T, NG_033036.1:g.11579G>T, NG_033036.1:g.11579G>C, NG_033036.1:g.11579G>A, NM_170699.3:c.868C>A, NM_170699.3:c.868C>G, NM_170699.3:c.868C>T, NM_170699.2:c.868C>A, NM_170699.2:c.868C>G, NM_170699.2:c.868C>T, NM_001077191.2:c.868C>A, NM_001077191.2:c.868C>G, NM_001077191.2:c.868C>T, NM_001077191.1:c.868C>A, NM_001077191.1:c.868C>G, NM_001077191.1:c.868C>T, NM_001321950.2:c.868C>A, NM_001321950.2:c.868C>G, NM_001321950.2:c.868C>T, NM_001321950.1:c.868C>A, NM_001321950.1:c.868C>G, NM_001321950.1:c.868C>T, NM_001077194.2:c.868C>A, NM_001077194.2:c.868C>G, NM_001077194.2:c.868C>T, NM_001077194.1:c.868C>A, NM_001077194.1:c.868C>G, NM_001077194.1:c.868C>T, XM_011510743.1:c.868C>A, XM_011510743.1:c.868C>G, XM_011510743.1:c.868C>T, NP_733800.1:p.Pro290Thr, NP_733800.1:p.Pro290Ala, NP_733800.1:p.Pro290Ser, NP_001070659.1:p.Pro290Thr, NP_001070659.1:p.Pro290Ala, NP_001070659.1:p.Pro290Ser, NP_001308879.1:p.Pro290Thr, NP_001308879.1:p.Pro290Ala, NP_001308879.1:p.Pro290Ser, NP_001070662.1:p.Pro290Thr, NP_001070662.1:p.Pro290Ala, NP_001070662.1:p.Pro290Ser, XP_011509045.1:p.Pro290Thr, XP_011509045.1:p.Pro290Ala, XP_011509045.1:p.Pro290Ser

Select item 14719489399.

rs1471948939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218263589 (GRCh38)
2:219128312 (GRCh37)
Canonical SPDI:: NC_000002.12:218263588:G:A
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218263589G>A, NC_000002.11:g.219128312G>A, NG_033036.1:g.11582C>T, NM_170699.3:c.865G>A, NM_170699.2:c.865G>A, NM_001077191.2:c.865G>A, NM_001077191.1:c.865G>A, NM_001321950.2:c.865G>A, NM_001321950.1:c.865G>A, NM_001077194.2:c.865G>A, NM_001077194.1:c.865G>A, XM_011510743.1:c.865G>A, NP_733800.1:p.Ala289Thr, NP_001070659.1:p.Ala289Thr, NP_001308879.1:p.Ala289Thr, NP_001070662.1:p.Ala289Thr, XP_011509045.1:p.Ala289Thr

Select item 146722133310.

rs1467221333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218263203 (GRCh38)
2:219127926 (GRCh37)
Canonical SPDI:: NC_000002.12:218263202:T:C
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218263203T>C, NC_000002.11:g.219127926T>C, NG_033036.1:g.11968A>G, NM_170699.3:c.479T>C, NM_170699.2:c.479T>C, NM_001077191.2:c.479T>C, NM_001077191.1:c.479T>C, NM_001321950.2:c.479T>C, NM_001321950.1:c.479T>C, NM_001077194.2:c.479T>C, NM_001077194.1:c.479T>C, XM_011510743.1:c.479T>C, NP_733800.1:p.Ile160Thr, NP_001070659.1:p.Ile160Thr, NP_001308879.1:p.Ile160Thr, NP_001070662.1:p.Ile160Thr, XP_011509045.1:p.Ile160Thr

Select item 146566054211.

rs1465660542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218263115 (GRCh38)
2:219127838 (GRCh37)
Canonical SPDI:: NC_000002.12:218263114:A:G
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218263115A>G, NC_000002.11:g.219127838A>G, NG_033036.1:g.12056T>C, NM_170699.3:c.391A>G, NM_170699.2:c.391A>G, NM_001077191.2:c.391A>G, NM_001077191.1:c.391A>G, NM_001321950.2:c.391A>G, NM_001321950.1:c.391A>G, NM_001077194.2:c.391A>G, NM_001077194.1:c.391A>G, XM_011510743.1:c.391A>G, NP_733800.1:p.Thr131Ala, NP_001070659.1:p.Thr131Ala, NP_001308879.1:p.Thr131Ala, NP_001070662.1:p.Thr131Ala, XP_011509045.1:p.Thr131Ala

Select item 146319515012.

rs1463195150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:218263379 (GRCh38)
2:219128102 (GRCh37)
Canonical SPDI:: NC_000002.12:218263378:A:C
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.218263379A>C, NC_000002.11:g.219128102A>C, NG_033036.1:g.11792T>G, NM_170699.3:c.655A>C, NM_170699.2:c.655A>C, NM_001077191.2:c.655A>C, NM_001077191.1:c.655A>C, NM_001321950.2:c.655A>C, NM_001321950.1:c.655A>C, NM_001077194.2:c.655A>C, NM_001077194.1:c.655A>C, XM_011510743.1:c.655A>C, NP_733800.1:p.Thr219Pro, NP_001070659.1:p.Thr219Pro, NP_001308879.1:p.Thr219Pro, NP_001070662.1:p.Thr219Pro, XP_011509045.1:p.Thr219Pro

Select item 146238222013.

rs1462382220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:218263340 (GRCh38)
2:219128063 (GRCh37)
Canonical SPDI:: NC_000002.12:218263339:G:T
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.218263340G>T, NC_000002.11:g.219128063G>T, NG_033036.1:g.11831C>A, NM_170699.3:c.616G>T, NM_170699.2:c.616G>T, NM_001077191.2:c.616G>T, NM_001077191.1:c.616G>T, NM_001321950.2:c.616G>T, NM_001321950.1:c.616G>T, NM_001077194.2:c.616G>T, NM_001077194.1:c.616G>T, XM_011510743.1:c.616G>T, NP_733800.1:p.Val206Leu, NP_001070659.1:p.Val206Leu, NP_001308879.1:p.Val206Leu, NP_001070662.1:p.Val206Leu, XP_011509045.1:p.Val206Leu

Select item 145978636914.

rs1459786369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218263554 (GRCh38)
2:219128277 (GRCh37)
Canonical SPDI:: NC_000002.12:218263553:C:T
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218263554C>T, NC_000002.11:g.219128277C>T, NG_033036.1:g.11617G>A, NM_170699.3:c.830C>T, NM_170699.2:c.830C>T, NM_001077191.2:c.830C>T, NM_001077191.1:c.830C>T, NM_001321950.2:c.830C>T, NM_001321950.1:c.830C>T, NM_001077194.2:c.830C>T, NM_001077194.1:c.830C>T, XM_011510743.1:c.830C>T, NP_733800.1:p.Pro277Leu, NP_001070659.1:p.Pro277Leu, NP_001308879.1:p.Pro277Leu, NP_001070662.1:p.Pro277Leu, XP_011509045.1:p.Pro277Leu

Select item 145923803915.

rs1459238039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:218262833 (GRCh38)
2:219127556 (GRCh37)
Canonical SPDI:: NC_000002.12:218262832:C:G,NC_000002.12:218262832:C:T
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218262833C>G, NC_000002.12:g.218262833C>T, NC_000002.11:g.219127556C>G, NC_000002.11:g.219127556C>T, NG_033036.1:g.12338G>C, NG_033036.1:g.12338G>A, NM_170699.3:c.109C>G, NM_170699.3:c.109C>T, NM_170699.2:c.109C>G, NM_170699.2:c.109C>T, NM_001077191.2:c.109C>G, NM_001077191.2:c.109C>T, NM_001077191.1:c.109C>G, NM_001077191.1:c.109C>T, NM_001321950.2:c.109C>G, NM_001321950.2:c.109C>T, NM_001321950.1:c.109C>G, NM_001321950.1:c.109C>T, NM_001077194.2:c.109C>G, NM_001077194.2:c.109C>T, NM_001077194.1:c.109C>G, NM_001077194.1:c.109C>T, XM_011510743.1:c.109C>G, XM_011510743.1:c.109C>T, NP_733800.1:p.Leu37Val, NP_001070659.1:p.Leu37Val, NP_001308879.1:p.Leu37Val, NP_001070662.1:p.Leu37Val, XP_011509045.1:p.Leu37Val

Select item 145202721716.

rs1452027217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218263322 (GRCh38)
2:219128045 (GRCh37)
Canonical SPDI:: NC_000002.12:218263321:T:C
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218263322T>C, NC_000002.11:g.219128045T>C, NG_033036.1:g.11849A>G, NM_170699.3:c.598T>C, NM_170699.2:c.598T>C, NM_001077191.2:c.598T>C, NM_001077191.1:c.598T>C, NM_001321950.2:c.598T>C, NM_001321950.1:c.598T>C, NM_001077194.2:c.598T>C, NM_001077194.1:c.598T>C, XM_011510743.1:c.598T>C, NP_733800.1:p.Cys200Arg, NP_001070659.1:p.Cys200Arg, NP_001308879.1:p.Cys200Arg, NP_001070662.1:p.Cys200Arg, XP_011509045.1:p.Cys200Arg

Select item 144928564017.

rs1449285640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218262993 (GRCh38)
2:219127716 (GRCh37)
Canonical SPDI:: NC_000002.12:218262992:T:C
Gene:: GPBAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218262993T>C, NC_000002.11:g.219127716T>C, NG_033036.1:g.12178A>G, NM_170699.3:c.269T>C, NM_170699.2:c.269T>C, NM_001077191.2:c.269T>C, NM_001077191.1:c.269T>C, NM_001321950.2:c.269T>C, NM_001321950.1:c.269T>C, NM_001077194.2:c.269T>C, NM_001077194.1:c.269T>C, XM_011510743.1:c.269T>C, NP_733800.1:p.Leu90Ser, NP_001070659.1:p.Leu90Ser, NP_001308879.1:p.Leu90Ser, NP_001070662.1:p.Leu90Ser, XP_011509045.1:p.Leu90Ser

Select item 144904283618.

rs1449042836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218263659 (GRCh38)
2:219128382 (GRCh37)
Canonical SPDI:: NC_000002.12:218263658:G:A
Gene:: AAMP (Varview), GPBAR1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218263659G>A, NC_000002.11:g.219128382G>A, NG_033036.1:g.11512C>T, NM_170699.3:c.935G>A, NM_170699.2:c.935G>A, NM_001077191.2:c.935G>A, NM_001077191.1:c.935G>A, NM_001321950.2:c.935G>A, NM_001321950.1:c.935G>A, NM_001077194.2:c.935G>A, NM_001077194.1:c.935G>A, XM_011510743.1:c.935G>A, NP_733800.1:p.Gly312Asp, NP_001070659.1:p.Gly312Asp, NP_001308879.1:p.Gly312Asp, NP_001070662.1:p.Gly312Asp, XP_011509045.1:p.Gly312Asp

Select item 144807792319.

rs1448077923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218263236 (GRCh38)
2:219127959 (GRCh37)
Canonical SPDI:: NC_000002.12:218263235:A:G
Gene:: GPBAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.218263236A>G, NC_000002.11:g.219127959A>G, NG_033036.1:g.11935T>C, NM_170699.3:c.512A>G, NM_170699.2:c.512A>G, NM_001077191.2:c.512A>G, NM_001077191.1:c.512A>G, NM_001321950.2:c.512A>G, NM_001321950.1:c.512A>G, NM_001077194.2:c.512A>G, NM_001077194.1:c.512A>G, XM_011510743.1:c.512A>G, NP_733800.1:p.Tyr171Cys, NP_001070659.1:p.Tyr171Cys, NP_001308879.1:p.Tyr171Cys, NP_001070662.1:p.Tyr171Cys, XP_011509045.1:p.Tyr171Cys

Select item 144229361120.

rs1442293611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218263303 (GRCh38)
2:219128026 (GRCh37)
Canonical SPDI:: NC_000002.12:218263302:C:G
Gene:: GPBAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218263303C>G, NC_000002.11:g.219128026C>G, NG_033036.1:g.11868G>C, NM_170699.3:c.579C>G, NM_170699.2:c.579C>G, NM_001077191.2:c.579C>G, NM_001077191.1:c.579C>G, NM_001321950.2:c.579C>G, NM_001321950.1:c.579C>G, NM_001077194.2:c.579C>G, NM_001077194.1:c.579C>G, XM_011510743.1:c.579C>G, NP_733800.1:p.His193Gln, NP_001070659.1:p.His193Gln, NP_001308879.1:p.His193Gln, NP_001070662.1:p.His193Gln, XP_011509045.1:p.His193Gln

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