Linked Data
ClinVar Variation Id:
654
ClinVar RCV Id:
RCV000000688
dbSNP Id:
rs118203910
ExAC:
1:169487691 G / A
gnomAD v2:
1-169487691-G-A
gnomAD v4:
1-169518453-G-A
COSMIC:
COSM207756
PubMed:
PMID:12393490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169518453G>A , CM000663.2:g.169518453G>A | GRCh38 |
| NC_000001.10:g.169487691G>A , CM000663.1:g.169487691G>A | GRCh37 |
| NC_000001.9:g.167754315G>A | NCBI36 |
| NG_011806.1:g.73079C>T , LRG_553:g.73079C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.6304C>T MANE Select | ENSP00000356771.3:p.Arg2102Cys | |
| ENST00000367796.3:c.6319C>T | ENSP00000356770.3:p.Arg2107Cys | |
| ENST00000367797.7:c.6304C>T | ENSP00000356771.3:p.Arg2102Cys | |
| NM_000130.4:c.6304C>T , LRG_553t1:c.6304C>T | NP_000121.2:p.Arg2102Cys | |
| XM_017000660.2:c.5893C>T | XP_016856149.1:p.Arg1965Cys | |
| NM_000130.5:c.6304C>T MANE Select | NP_000121.2:p.Arg2102Cys |