Linked Data
dbSNP Id:
rs780528900
ExAC:
19:18499467 C / T
gnomAD v2:
19-18499467-C-T
gnomAD v4:
19-18388657-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388657C>T , CM000681.2:g.18388657C>T | GRCh38 |
| NC_000019.9:g.18499467C>T , CM000681.1:g.18499467C>T | GRCh37 |
| NC_000019.8:g.18360467C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.649C>T | ENSP00000470531.3:p.Arg217Cys | |
| ENST00000597765.2:c.649C>T | ENSP00000469819.2:p.Arg217Cys | |
| ENST00000252809.3:c.649C>T MANE Select | ENSP00000252809.3:p.Arg217Cys | |
| NM_004864.2:c.649C>T | NP_004855.2:p.Arg217Cys | |
| NM_004864.3:c.649C>T | NP_004855.2:p.Arg217Cys | |
| XM_024451789.1:c.649C>T | XP_024307557.1:p.Arg217Cys | |
| NM_004864.4:c.649C>T MANE Select | NP_004855.2:p.Arg217Cys |