SNP Links for Protein (Select 530367729) - SNP

Links from Protein

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Select item 14909677541.

rs1490967754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27040106 (GRCh38)
2:27262974 (GRCh37)
Canonical SPDI:: NC_000002.12:27040105:G:A
Gene:: TMEM214 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.27040106G>A, NC_000002.11:g.27262974G>A, NG_082494.1:g.1397G>A, NM_017727.5:c.1699G>A, NM_017727.4:c.1699G>A, XM_005264381.4:c.1891G>A, XM_005264381.3:c.1891G>A, XM_005264381.2:c.1891G>A, XM_005264381.1:c.1891G>A, XM_005264382.4:c.1777G>A, XM_005264382.3:c.1777G>A, XM_005264382.2:c.1777G>A, XM_005264382.1:c.1777G>A, XM_005264383.3:c.688G>A, XM_005264383.2:c.688G>A, XM_005264383.1:c.688G>A, NM_001083590.2:c.1564G>A, NM_001083590.1:c.1564G>A, XM_047444826.1:c.1794G>A, NP_060197.4:p.Ala567Thr, XP_005264438.1:p.Ala631Thr, XP_005264439.1:p.Ala593Thr, XP_005264440.1:p.Ala230Thr, NP_001077059.1:p.Ala522Thr

Select item 14891948142.

rs1489194814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27033165 (GRCh38)
2:27256033 (GRCh37)
Canonical SPDI:: NC_000002.12:27033164:C:A,NC_000002.12:27033164:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27033165C>A, NC_000002.12:g.27033165C>T, NC_000002.11:g.27256033C>A, NC_000002.11:g.27256033C>T, NM_017727.5:c.150C>A, NM_017727.5:c.150C>T, NM_017727.4:c.150C>A, NM_017727.4:c.150C>T, XM_005264381.4:c.150C>A, XM_005264381.4:c.150C>T, XM_005264381.3:c.150C>A, XM_005264381.3:c.150C>T, XM_005264381.2:c.150C>A, XM_005264381.2:c.150C>T, XM_005264381.1:c.150C>A, XM_005264381.1:c.150C>T, XM_005264382.4:c.150C>A, XM_005264382.4:c.150C>T, XM_005264382.3:c.150C>A, XM_005264382.3:c.150C>T, XM_005264382.2:c.150C>A, XM_005264382.2:c.150C>T, XM_005264382.1:c.150C>A, XM_005264382.1:c.150C>T, NM_001083590.2:c.150C>A, NM_001083590.2:c.150C>T, NM_001083590.1:c.150C>A, NM_001083590.1:c.150C>T, XM_047444826.1:c.150C>A, XM_047444826.1:c.150C>T, XM_047444827.1:c.150C>A, XM_047444827.1:c.150C>T

Select item 14891641133.

rs1489164113 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGC>- [Show Flanks]
Chromosome:: 2:27035990 (GRCh38)
2:27258858 (GRCh37)
Canonical SPDI:: NC_000002.12:27035988:CCGC:C
Gene:: TMEM214 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27035990_27035992del, NC_000002.11:g.27258858_27258860del, NM_017727.5:c.658_660del, NM_017727.4:c.658_660del, XM_005264381.4:c.658_660del, XM_005264381.3:c.658_660del, XM_005264381.2:c.658_660del, XM_005264381.1:c.658_660del, XM_005264382.4:c.658_660del, XM_005264382.3:c.658_660del, XM_005264382.2:c.658_660del, XM_005264382.1:c.658_660del, NM_001083590.2:c.523_525del, NM_001083590.1:c.523_525del, XM_047444826.1:c.658_660del, XM_047444827.1:c.658_660del, NP_060197.4:p.Arg220del, XP_005264438.1:p.Arg220del, XP_005264439.1:p.Arg220del, NP_001077059.1:p.Arg175del, XP_047300782.1:p.Arg220del, XP_047300783.1:p.Arg220del

Select item 14886230204.

rs1488623020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27040404 (GRCh38)
2:27263272 (GRCh37)
Canonical SPDI:: NC_000002.12:27040403:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27040404C>T, NC_000002.11:g.27263272C>T, NM_017727.5:c.1851C>T, NM_017727.4:c.1851C>T, XM_005264381.4:c.2043C>T, XM_005264381.3:c.2043C>T, XM_005264381.2:c.2043C>T, XM_005264381.1:c.2043C>T, XM_005264382.4:c.1929C>T, XM_005264382.3:c.1929C>T, XM_005264382.2:c.1929C>T, XM_005264382.1:c.1929C>T, XM_005264383.3:c.840C>T, XM_005264383.2:c.840C>T, XM_005264383.1:c.840C>T, NM_001083590.2:c.1716C>T, NM_001083590.1:c.1716C>T, XM_047444826.1:c.*32C>T

Select item 14886029795.

rs1488602979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:27040714 (GRCh38)
2:27263582 (GRCh37)
Canonical SPDI:: NC_000002.12:27040713:T:G
Gene:: TMEM214 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27040714T>G, NC_000002.11:g.27263582T>G, NM_017727.5:c.1947T>G, NM_017727.4:c.1947T>G, XM_005264381.4:c.2139T>G, XM_005264381.3:c.2139T>G, XM_005264381.2:c.2139T>G, XM_005264381.1:c.2139T>G, XM_005264382.4:c.2025T>G, XM_005264382.3:c.2025T>G, XM_005264382.2:c.2025T>G, XM_005264382.1:c.2025T>G, XM_005264383.3:c.936T>G, XM_005264383.2:c.936T>G, XM_005264383.1:c.936T>G, NM_001083590.2:c.1812T>G, NM_001083590.1:c.1812T>G

Select item 14864914056.

rs1486491405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27040067 (GRCh38)
2:27262935 (GRCh37)
Canonical SPDI:: NC_000002.12:27040066:C:G
Gene:: TMEM214 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27040067C>G, NC_000002.11:g.27262935C>G, NG_082494.1:g.1358C>G, NM_017727.5:c.1660C>G, NM_017727.4:c.1660C>G, XM_005264381.4:c.1852C>G, XM_005264381.3:c.1852C>G, XM_005264381.2:c.1852C>G, XM_005264381.1:c.1852C>G, XM_005264382.4:c.1738C>G, XM_005264382.3:c.1738C>G, XM_005264382.2:c.1738C>G, XM_005264382.1:c.1738C>G, XM_005264383.3:c.649C>G, XM_005264383.2:c.649C>G, XM_005264383.1:c.649C>G, NM_001083590.2:c.1525C>G, NM_001083590.1:c.1525C>G, XM_047444826.1:c.1755C>G, NP_060197.4:p.Leu554Val, XP_005264438.1:p.Leu618Val, XP_005264439.1:p.Leu580Val, XP_005264440.1:p.Leu217Val, NP_001077059.1:p.Leu509Val

Select item 14855826577.

rs1485582657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27037863 (GRCh38)
2:27260731 (GRCh37)
Canonical SPDI:: NC_000002.12:27037862:A:G
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27037863A>G, NC_000002.11:g.27260731A>G, XM_005264381.4:c.1201A>G, XM_005264381.3:c.1201A>G, XM_005264381.2:c.1201A>G, XM_005264381.1:c.1201A>G, XM_005264382.4:c.1201A>G, XM_005264382.3:c.1201A>G, XM_005264382.2:c.1201A>G, XM_005264382.1:c.1201A>G, XM_005264383.3:c.-3A>G, XM_005264383.2:c.-3A>G, XM_005264383.1:c.-3A>G, XM_047444826.1:c.1201A>G, XM_047444827.1:c.*62A>G, XP_005264438.1:p.Lys401Glu, XP_005264439.1:p.Lys401Glu, XP_047300782.1:p.Lys401Glu

Select item 14842287018.

rs1484228701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27035206 (GRCh38)
2:27258074 (GRCh37)
Canonical SPDI:: NC_000002.12:27035205:G:T
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.27035206G>T, NC_000002.11:g.27258074G>T, NM_017727.5:c.423G>T, NM_017727.4:c.423G>T, XM_005264381.4:c.423G>T, XM_005264381.3:c.423G>T, XM_005264381.2:c.423G>T, XM_005264381.1:c.423G>T, XM_005264382.4:c.423G>T, XM_005264382.3:c.423G>T, XM_005264382.2:c.423G>T, XM_005264382.1:c.423G>T, NM_001083590.2:c.423G>T, NM_001083590.1:c.423G>T, XM_047444826.1:c.423G>T, XM_047444827.1:c.423G>T, NP_060197.4:p.Trp141Cys, XP_005264438.1:p.Trp141Cys, XP_005264439.1:p.Trp141Cys, NP_001077059.1:p.Trp141Cys, XP_047300782.1:p.Trp141Cys, XP_047300783.1:p.Trp141Cys

Select item 14821425339.

rs1482142533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27038496 (GRCh38)
2:27261364 (GRCh37)
Canonical SPDI:: NC_000002.12:27038495:G:A,NC_000002.12:27038495:G:C
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.27038496G>A, NC_000002.12:g.27038496G>C, NC_000002.11:g.27261364G>A, NC_000002.11:g.27261364G>C, NM_017727.5:c.1257G>A, NM_017727.5:c.1257G>C, NM_017727.4:c.1257G>A, NM_017727.4:c.1257G>C, XM_005264381.4:c.1449G>A, XM_005264381.4:c.1449G>C, XM_005264381.3:c.1449G>A, XM_005264381.3:c.1449G>C, XM_005264381.2:c.1449G>A, XM_005264381.2:c.1449G>C, XM_005264381.1:c.1449G>A, XM_005264381.1:c.1449G>C, XM_005264382.4:c.1335G>A, XM_005264382.4:c.1335G>C, XM_005264382.3:c.1335G>A, XM_005264382.3:c.1335G>C, XM_005264382.2:c.1335G>A, XM_005264382.2:c.1335G>C, XM_005264382.1:c.1335G>A, XM_005264382.1:c.1335G>C, XM_005264383.3:c.246G>A, XM_005264383.3:c.246G>C, XM_005264383.2:c.246G>A, XM_005264383.2:c.246G>C, XM_005264383.1:c.246G>A, XM_005264383.1:c.246G>C, NM_001083590.2:c.1122G>A, NM_001083590.2:c.1122G>C, NM_001083590.1:c.1122G>A, NM_001083590.1:c.1122G>C, XM_047444826.1:c.1449G>A, XM_047444826.1:c.1449G>C, NP_060197.4:p.Glu419Asp, XP_005264438.1:p.Glu483Asp, XP_005264439.1:p.Glu445Asp, XP_005264440.1:p.Glu82Asp, NP_001077059.1:p.Glu374Asp, XP_047300782.1:p.Glu483Asp

Select item 148147523410.

rs1481475234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27039823 (GRCh38)
2:27262691 (GRCh37)
Canonical SPDI:: NC_000002.12:27039822:T:C
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27039823T>C, NC_000002.11:g.27262691T>C, NG_082494.1:g.1114T>C, NM_017727.5:c.1608T>C, NM_017727.4:c.1608T>C, XM_005264381.4:c.1800T>C, XM_005264381.3:c.1800T>C, XM_005264381.2:c.1800T>C, XM_005264381.1:c.1800T>C, XM_005264382.4:c.1686T>C, XM_005264382.3:c.1686T>C, XM_005264382.2:c.1686T>C, XM_005264382.1:c.1686T>C, XM_005264383.3:c.597T>C, XM_005264383.2:c.597T>C, XM_005264383.1:c.597T>C, NM_001083590.2:c.1473T>C, NM_001083590.1:c.1473T>C

Select item 147762537911.

rs1477625379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27039151 (GRCh38)
2:27262019 (GRCh37)
Canonical SPDI:: NC_000002.12:27039150:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.27039151C>T, NC_000002.11:g.27262019C>T, NG_082494.1:g.442C>T, NM_017727.5:c.1512C>T, NM_017727.4:c.1512C>T, XM_005264381.4:c.1704C>T, XM_005264381.3:c.1704C>T, XM_005264381.2:c.1704C>T, XM_005264381.1:c.1704C>T, XM_005264382.4:c.1590C>T, XM_005264382.3:c.1590C>T, XM_005264382.2:c.1590C>T, XM_005264382.1:c.1590C>T, XM_005264383.3:c.501C>T, XM_005264383.2:c.501C>T, XM_005264383.1:c.501C>T, NM_001083590.2:c.1377C>T, NM_001083590.1:c.1377C>T, XM_047444826.1:c.1704C>T

Select item 147757401612.

rs1477574016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27040421 (GRCh38)
2:27263289 (GRCh37)
Canonical SPDI:: NC_000002.12:27040420:A:G
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27040421A>G, NC_000002.11:g.27263289A>G, NM_017727.5:c.1868A>G, NM_017727.4:c.1868A>G, XM_005264381.4:c.2060A>G, XM_005264381.3:c.2060A>G, XM_005264381.2:c.2060A>G, XM_005264381.1:c.2060A>G, XM_005264382.4:c.1946A>G, XM_005264382.3:c.1946A>G, XM_005264382.2:c.1946A>G, XM_005264382.1:c.1946A>G, XM_005264383.3:c.857A>G, XM_005264383.2:c.857A>G, XM_005264383.1:c.857A>G, NM_001083590.2:c.1733A>G, NM_001083590.1:c.1733A>G, XM_047444826.1:c.*49A>G, NP_060197.4:p.Asn623Ser, XP_005264438.1:p.Asn687Ser, XP_005264439.1:p.Asn649Ser, XP_005264440.1:p.Asn286Ser, NP_001077059.1:p.Asn578Ser

Select item 147656529213.

rs1476565292 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCATCCGAGGGCTG>- [Show Flanks]
Chromosome:: 2:27035632 (GRCh38)
2:27258500 (GRCh37)
Canonical SPDI:: NC_000002.12:27035630:GATCATCCGAGGGCTG:G
Gene:: TMEM214 (Varview)
Functional Consequence:: inframe_deletion,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27035632_27035646del, NC_000002.11:g.27258500_27258514del, NM_017727.5:c.541_555del, NM_017727.4:c.541_555del, XM_005264381.4:c.541_555del, XM_005264381.3:c.541_555del, XM_005264381.2:c.541_555del, XM_005264381.1:c.541_555del, XM_005264382.4:c.541_555del, XM_005264382.3:c.541_555del, XM_005264382.2:c.541_555del, XM_005264382.1:c.541_555del, XM_047444826.1:c.541_555del, XM_047444827.1:c.541_555del, NP_060197.4:p.Ile181_Leu185del, XP_005264438.1:p.Ile181_Leu185del, XP_005264439.1:p.Ile181_Leu185del, XP_047300782.1:p.Ile181_Leu185del, XP_047300783.1:p.Ile181_Leu185del

Select item 147370793314.

rs1473707933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:27039765 (GRCh38)
2:27262633 (GRCh37)
Canonical SPDI:: NC_000002.12:27039764:G:A,NC_000002.12:27039764:G:T
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000002.12:g.27039765G>A, NC_000002.12:g.27039765G>T, NC_000002.11:g.27262633G>A, NC_000002.11:g.27262633G>T, NG_082494.1:g.1056G>A, NG_082494.1:g.1056G>T, NM_017727.5:c.1550G>A, NM_017727.5:c.1550G>T, NM_017727.4:c.1550G>A, NM_017727.4:c.1550G>T, XM_005264381.4:c.1742G>A, XM_005264381.4:c.1742G>T, XM_005264381.3:c.1742G>A, XM_005264381.3:c.1742G>T, XM_005264381.2:c.1742G>A, XM_005264381.2:c.1742G>T, XM_005264381.1:c.1742G>A, XM_005264381.1:c.1742G>T, XM_005264382.4:c.1628G>A, XM_005264382.4:c.1628G>T, XM_005264382.3:c.1628G>A, XM_005264382.3:c.1628G>T, XM_005264382.2:c.1628G>A, XM_005264382.2:c.1628G>T, XM_005264382.1:c.1628G>A, XM_005264382.1:c.1628G>T, XM_005264383.3:c.539G>A, XM_005264383.3:c.539G>T, XM_005264383.2:c.539G>A, XM_005264383.2:c.539G>T, XM_005264383.1:c.539G>A, XM_005264383.1:c.539G>T, NM_001083590.2:c.1415G>A, NM_001083590.2:c.1415G>T, NM_001083590.1:c.1415G>A, NM_001083590.1:c.1415G>T, NP_060197.4:p.Arg517Gln, NP_060197.4:p.Arg517Leu, XP_005264438.1:p.Arg581Gln, XP_005264438.1:p.Arg581Leu, XP_005264439.1:p.Arg543Gln, XP_005264439.1:p.Arg543Leu, XP_005264440.1:p.Arg180Gln, XP_005264440.1:p.Arg180Leu, NP_001077059.1:p.Arg472Gln, NP_001077059.1:p.Arg472Leu

Select item 147359141115.

rs1473591411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27037877 (GRCh38)
2:27260745 (GRCh37)
Canonical SPDI:: NC_000002.12:27037876:G:A
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27037877G>A, NC_000002.11:g.27260745G>A, XM_005264381.4:c.1215G>A, XM_005264381.3:c.1215G>A, XM_005264381.2:c.1215G>A, XM_005264381.1:c.1215G>A, XM_005264382.4:c.1215G>A, XM_005264382.3:c.1215G>A, XM_005264382.2:c.1215G>A, XM_005264382.1:c.1215G>A, XM_005264383.3:c.12G>A, XM_005264383.2:c.12G>A, XM_005264383.1:c.12G>A, XM_047444826.1:c.1215G>A, XM_047444827.1:c.*76G>A

Select item 147113039816.

rs1471130398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27040496 (GRCh38)
2:27263364 (GRCh37)
Canonical SPDI:: NC_000002.12:27040495:G:A
Gene:: TMEM214 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_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)
HGVS:: NC_000002.12:g.27040496G>A, NC_000002.11:g.27263364G>A, NM_017727.5:c.1943G>A, NM_017727.4:c.1943G>A, XM_005264381.4:c.2135G>A, XM_005264381.3:c.2135G>A, XM_005264381.2:c.2135G>A, XM_005264381.1:c.2135G>A, XM_005264382.4:c.2021G>A, XM_005264382.3:c.2021G>A, XM_005264382.2:c.2021G>A, XM_005264382.1:c.2021G>A, XM_005264383.3:c.932G>A, XM_005264383.2:c.932G>A, XM_005264383.1:c.932G>A, NM_001083590.2:c.1808G>A, NM_001083590.1:c.1808G>A, XM_047444826.1:c.*124G>A, NP_060197.4:p.Arg648Lys, XP_005264438.1:p.Arg712Lys, XP_005264439.1:p.Arg674Lys, XP_005264440.1:p.Arg311Lys, NP_001077059.1:p.Arg603Lys

Select item 146886007117.

rs1468860071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27038808 (GRCh38)
2:27261676 (GRCh37)
Canonical SPDI:: NC_000002.12:27038807:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.27038808C>T, NC_000002.11:g.27261676C>T, NG_082494.1:g.99C>T, NM_017727.5:c.1400C>T, NM_017727.4:c.1400C>T, XM_005264381.4:c.1592C>T, XM_005264381.3:c.1592C>T, XM_005264381.2:c.1592C>T, XM_005264381.1:c.1592C>T, XM_005264382.4:c.1478C>T, XM_005264382.3:c.1478C>T, XM_005264382.2:c.1478C>T, XM_005264382.1:c.1478C>T, XM_005264383.3:c.389C>T, XM_005264383.2:c.389C>T, XM_005264383.1:c.389C>T, NM_001083590.2:c.1265C>T, NM_001083590.1:c.1265C>T, XM_047444826.1:c.1592C>T, NP_060197.4:p.Ala467Val, XP_005264438.1:p.Ala531Val, XP_005264439.1:p.Ala493Val, XP_005264440.1:p.Ala130Val, NP_001077059.1:p.Ala422Val, XP_047300782.1:p.Ala531Val

Select item 146865039218.

rs1468650392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27036018 (GRCh38)
2:27258886 (GRCh37)
Canonical SPDI:: NC_000002.12:27036017:A:G
Gene:: TMEM214 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27036018A>G, NC_000002.11:g.27258886A>G, NM_017727.5:c.686A>G, NM_017727.4:c.686A>G, XM_005264381.4:c.686A>G, XM_005264381.3:c.686A>G, XM_005264381.2:c.686A>G, XM_005264381.1:c.686A>G, XM_005264382.4:c.686A>G, XM_005264382.3:c.686A>G, XM_005264382.2:c.686A>G, XM_005264382.1:c.686A>G, NM_001083590.2:c.551A>G, NM_001083590.1:c.551A>G, XM_047444826.1:c.686A>G, XM_047444827.1:c.686A>G, NP_060197.4:p.Asp229Gly, XP_005264438.1:p.Asp229Gly, XP_005264439.1:p.Asp229Gly, NP_001077059.1:p.Asp184Gly, XP_047300782.1:p.Asp229Gly, XP_047300783.1:p.Asp229Gly

Select item 146768905519.

rs1467689055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27038140 (GRCh38)
2:27261008 (GRCh37)
Canonical SPDI:: NC_000002.12:27038139:G:A
Gene:: TMEM214 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27038140G>A, NC_000002.11:g.27261008G>A, XM_005264381.4:c.1339G>A, XM_005264381.3:c.1339G>A, XM_005264381.2:c.1339G>A, XM_005264381.1:c.1339G>A, XM_005264383.3:c.136G>A, XM_005264383.2:c.136G>A, XM_005264383.1:c.136G>A, XM_047444826.1:c.1339G>A, XP_005264438.1:p.Val447Met, XP_005264440.1:p.Val46Met, XP_047300782.1:p.Val447Met

Select item 146544481920.

rs1465444819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27038785 (GRCh38)
2:27261653 (GRCh37)
Canonical SPDI:: NC_000002.12:27038784:G:A
Gene:: TMEM214 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27038785G>A, NC_000002.11:g.27261653G>A, NG_082494.1:g.76G>A, NM_017727.5:c.1377G>A, NM_017727.4:c.1377G>A, XM_005264381.4:c.1569G>A, XM_005264381.3:c.1569G>A, XM_005264381.2:c.1569G>A, XM_005264381.1:c.1569G>A, XM_005264382.4:c.1455G>A, XM_005264382.3:c.1455G>A, XM_005264382.2:c.1455G>A, XM_005264382.1:c.1455G>A, XM_005264383.3:c.366G>A, XM_005264383.2:c.366G>A, XM_005264383.1:c.366G>A, NM_001083590.2:c.1242G>A, NM_001083590.1:c.1242G>A, XM_047444826.1:c.1569G>A

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