Linked Data
ClinVar Variation Id:
218897
dbSNP Id:
rs779241085
ExAC:
4:103226211 C / A
gnomAD v2:
4-103226211-C-A
gnomAD v3:
4-102305054-C-A
gnomAD v4:
4-102305054-C-A
PubMed:
PMID:26637979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102305054C>A , CM000666.2:g.102305054C>A | GRCh38 |
| NC_000004.11:g.103226211C>A , CM000666.1:g.103226211C>A | GRCh37 |
| NC_000004.10:g.103445234C>A | NCBI36 |
| NG_047177.1:g.45445G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424970.7:c.610G>T | ENSP00000394548.3:p.Gly204Cys | |
| ENST00000682227.1:c.610G>T | ENSP00000508363.1:p.Gly204Cys | |
| ENST00000682243.1:c.*731G>T | ENSP00000507952.1:n.*731G>T | |
| ENST00000682549.1:c.610G>T | ENSP00000507483.1:p.Gly204Cys | |
| ENST00000682932.1:c.610G>T | ENSP00000507414.1:p.Gly204Cys | |
| ENST00000683173.1:c.*731G>T | ENSP00000508032.1:n.*731G>T | |
| ENST00000683221.1:c.610G>T | ENSP00000508093.1:p.Gly204Cys | |
| ENST00000683401.1:n.543G>T | ||
| ENST00000683412.1:c.610G>T | ENSP00000507538.1:p.Gly204Cys | |
| ENST00000683462.1:c.610G>T | ENSP00000507170.1:p.Gly204Cys | |
| ENST00000683634.1:c.*731G>T | ENSP00000507087.1:n.*731G>T | |
| ENST00000683706.1:c.220-19081G>T | ENSP00000506745.1:n.220-19081G>T | |
| ENST00000683916.1:c.610G>T | ENSP00000508106.1:p.Gly204Cys | |
| ENST00000684289.1:c.*285G>T | ENSP00000506748.1:n.*285G>T | |
| ENST00000684386.1:c.610G>T | ENSP00000507611.1:p.Gly204Cys | |
| ENST00000356736.5:c.610G>T MANE Select | ENSP00000349174.4:p.Gly204Cys | |
| ENST00000356736.4:c.610G>T | ENSP00000349174.4:p.Gly204Cys | |
| ENST00000394833.6:c.610G>T | ENSP00000378310.2:p.Gly204Cys | |
| ENST00000424970.6:c.610G>T | ENSP00000394548.2:p.Gly204Cys | |
| ENST00000510255.5:n.538G>T | ||
| ENST00000512657.5:n.529G>T | ||
| ENST00000514000.5:n.314G>T | ||
| NM_001135146.1:c.610G>T | NP_001128618.1:p.Gly204Cys | |
| NM_001135147.1:c.610G>T | NP_001128619.1:p.Gly204Cys | |
| NM_001135148.1:c.409G>T | NP_001128620.1:p.Gly137Cys | |
| NM_022154.5:c.610G>T | NP_071437.3:p.Gly204Cys | |
| XM_005263177.1:c.610G>T | XP_005263234.1:p.Gly204Cys | |
| XM_011532181.1:c.610G>T | XP_011530483.1:p.Gly204Cys | |
| XM_011532182.1:c.-33G>T | XP_011530484.1:n.-33G>T | |
| XM_005263177.2:c.610G>T | XP_005263234.1:p.Gly204Cys | |
| XM_017008541.1:c.409G>T | XP_016864030.1:p.Gly137Cys | |
| XM_024454183.1:c.610G>T | XP_024309951.1:p.Gly204Cys | |
| XM_024454184.1:c.610G>T | XP_024309952.1:p.Gly204Cys | |
| NM_001135146.2:c.610G>T MANE Select | NP_001128618.1:p.Gly204Cys | |
| NM_001135148.2:c.409G>T | NP_001128620.1:p.Gly137Cys |