Linked Data
ClinVar Variation Id:
445686
ClinVar RCV Id:
RCV000513779
dbSNP Id:
rs491671
ExAC:
11:59573957 G / A
gnomAD v2:
11-59573957-G-A
gnomAD v3:
11-59806484-G-A
gnomAD v4:
11-59806484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59806484G>A , CM000673.2:g.59806484G>A | GRCh38 |
| NC_000011.9:g.59573957G>A , CM000673.1:g.59573957G>A | GRCh37 |
| NC_000011.8:g.59330533G>A | NCBI36 |
| NG_047082.1:g.56426G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300151.5:c.619C>T MANE Select | ENSP00000300151.4:p.Arg207Cys | |
| ENST00000300151.4:c.619C>T | ENSP00000300151.4:p.Arg207Cys | |
| NM_017840.3:c.619C>T | NP_060310.1:p.Arg207Cys | |
| XM_011545118.1:c.310C>T | XP_011543420.1:p.Arg104Cys | |
| NM_017840.4:c.619C>T MANE Select | NP_060310.1:p.Arg207Cys |