Linked Data
ClinVar Variation Id:
1929955
ClinVar RCV Id:
RCV002618794
dbSNP Id:
rs746786420
ExAC:
2:85780133 G / A
gnomAD v3:
2-85553010-G-A
gnomAD v4:
2-85553010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553010G>A , CM000664.2:g.85553010G>A | GRCh38 |
| NC_000002.11:g.85780133G>A , CM000664.1:g.85780133G>A | GRCh37 |
| NC_000002.10:g.85633644G>A | NCBI36 |
| NG_011811.2:g.13525C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5260C>T | ||
| ENST00000482662.2:n.3667C>T | ||
| ENST00000685865.1:n.1619C>T | ||
| ENST00000687250.1:n.1319C>T | ||
| ENST00000687995.1:n.1568C>T | ||
| ENST00000688205.1:c.*809C>T | ENSP00000509673.1:n.*809C>T | |
| ENST00000688788.1:n.1455C>T | ||
| ENST00000689276.1:c.1147C>T | ENSP00000510012.1:p.Arg383Cys | |
| ENST00000689576.1:c.1216C>T | ENSP00000508712.1:p.Arg406Cys | |
| ENST00000690108.1:c.*872C>T | ENSP00000510617.1:n.*872C>T | |
| ENST00000690468.1:c.937C>T | ENSP00000509078.1:p.Arg313Cys | |
| ENST00000690595.1:c.541C>T | ENSP00000508979.1:p.Arg181Cys | |
| ENST00000691348.1:c.1045C>T | ENSP00000509369.1:p.Arg349Cys | |
| ENST00000691410.1:c.*793C>T | ENSP00000508479.1:n.*793C>T | |
| ENST00000693287.1:c.532C>T | ENSP00000510264.1:p.Arg178Cys | |
| ENST00000693681.1:c.529C>T | ENSP00000510789.1:p.Arg177Cys | |
| ENST00000233838.9:c.1216C>T MANE Select | ENSP00000233838.3:p.Arg406Cys | |
| ENST00000233838.8:c.1216C>T | ENSP00000233838.3:p.Arg406Cys | |
| ENST00000430215.7:c.1045C>T | ENSP00000408045.3:p.Arg349Cys | |
| ENST00000465637.5:n.179-5006C>T | ||
| ENST00000473665.1:n.709C>T | ||
| ENST00000482662.1:n.633C>T | ||
| NM_000821.5:c.1216C>T | NP_000812.2:p.Arg406Cys | |
| NM_000821.6:c.1216C>T | NP_000812.2:p.Arg406Cys | |
| NM_001142269.2:c.1045C>T | NP_001135741.1:p.Arg349Cys | |
| NM_001142269.3:c.1045C>T | NP_001135741.1:p.Arg349Cys | |
| XM_005264259.3:c.1216C>T | XP_005264316.1:p.Arg406Cys | |
| XM_011532764.1:c.394C>T | XP_011531066.1:p.Arg132Cys | |
| XM_011532765.1:c.394C>T | XP_011531067.1:p.Arg132Cys | |
| XR_939677.1:n.1281C>T | ||
| XM_005264259.5:c.1216C>T | XP_005264316.1:p.Arg406Cys | |
| XM_011532764.3:c.394C>T | XP_011531066.1:p.Arg132Cys | |
| XM_011532765.3:c.394C>T | XP_011531067.1:p.Arg132Cys | |
| XM_017003803.2:c.1045C>T | XP_016859292.1:p.Arg349Cys | |
| XR_001738703.2:n.1281C>T | ||
| NM_000821.7:c.1216C>T MANE Select | NP_000812.2:p.Arg406Cys | |
| NM_001142269.4:c.1045C>T | NP_001135741.1:p.Arg349Cys |