Linked Data
dbSNP Id:
rs772496044
ExAC:
19:46307667 A / C
gnomAD v2:
19-46307667-A-C
gnomAD v4:
19-45804409-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804409A>C , CM000681.2:g.45804409A>C | GRCh38 |
| NC_000019.9:g.46307667A>C , CM000681.1:g.46307667A>C | GRCh37 |
| NC_000019.8:g.50999507A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1496T>G MANE Select | ENSP00000221538.2:p.Phe499Cys | |
| ENST00000221538.7:c.1496T>G | ENSP00000221538.2:p.Phe499Cys | |
| ENST00000597055.1:c.1496T>G | ENSP00000472630.1:p.Phe499Cys | |
| ENST00000600188.5:c.704T>G | ENSP00000471559.1:p.Phe235Cys | |
| NM_030785.3:c.1496T>G | NP_110412.1:p.Phe499Cys | |
| XM_011527351.1:c.1496T>G | XP_011525653.1:p.Phe499Cys | |
| XM_011527351.2:c.1496T>G | XP_011525653.1:p.Phe499Cys | |
| NM_030785.4:c.1496T>G MANE Select | NP_110412.1:p.Phe499Cys |