Linked Data
ClinVar Variation Id:
50989
dbSNP Id:
rs587776984
gnomAD v2:
2-136664933-G-A
gnomAD v3:
2-135907363-G-A
gnomAD v4:
2-135907363-G-A
PubMed:
PMID:23643384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135907363G>A , CM000664.2:g.135907363G>A | GRCh38 |
| NC_000002.11:g.136664933G>A , CM000664.1:g.136664933G>A | GRCh37 |
| NC_000002.10:g.136381403G>A | NCBI36 |
| NG_034149.1:g.83322C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264161.9:c.1459C>T MANE Select | ENSP00000264161.4:p.Arg487Cys | |
| ENST00000264161.8:c.1459C>T | ENSP00000264161.4:p.Arg487Cys | |
| ENST00000422708.3:c.520C>T | ENSP00000387508.1:p.Arg174Cys | |
| ENST00000478212.5:n.353C>T | ||
| ENST00000489964.5:n.708C>T | ||
| NM_001293312.1:c.1159C>T | NP_001280241.1:p.Arg387Cys | |
| NM_001349.3:c.1459C>T | NP_001340.2:p.Arg487Cys | |
| NM_001349.4:c.1459C>T MANE Select | NP_001340.2:p.Arg487Cys |