Linked Data
ClinVar Variation Id:
3147818
ClinVar RCV Id:
RCV004437651
dbSNP Id:
rs370063465
ExAC:
1:36563982 G / A
gnomAD v2:
1-36563982-G-A
gnomAD v3:
1-36098381-G-A
gnomAD v4:
1-36098381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36098381G>A , CM000663.2:g.36098381G>A | GRCh38 |
| NC_000001.10:g.36563982G>A , CM000663.1:g.36563982G>A | GRCh37 |
| NC_000001.9:g.36336569G>A | NCBI36 |
| NG_016245.2:g.31704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397799.2:c.1300C>T MANE Select | ENSP00000380901.1:p.Arg434Cys | |
| ENST00000303143.9:c.1300C>T | ENSP00000305913.4:p.Arg434Cys | |
| ENST00000397799.1:c.1300C>T | ENSP00000380901.1:p.Arg434Cys | |
| ENST00000481785.1:c.1105C>T | ENSP00000436433.1:p.Arg369Cys | |
| ENST00000615990.1:c.773-301C>T | ENSP00000484406.1:n.773-301C>T | |
| NM_001294347.1:c.1105C>T | NP_001281276.1:p.Arg369Cys | |
| NM_005202.3:c.1300C>T | NP_005193.1:p.Arg434Cys | |
| XM_005270477.2:c.1531C>T | XP_005270534.1:p.Arg511Cys | |
| XM_005270477.3:c.1531C>T | XP_005270534.1:p.Arg511Cys | |
| NM_005202.4:c.1300C>T MANE Select | NP_005193.1:p.Arg434Cys | |
| NM_001294347.2:c.1105C>T | NP_001281276.1:p.Arg369Cys |