Linked Data
gnomAD v4:
12-57763696-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763696A>C , CM000674.2:g.57763696A>C | GRCh38 |
| NC_000012.11:g.58157479A>C , CM000674.1:g.58157479A>C | GRCh37 |
| NC_000012.10:g.56443746A>C | NCBI36 |
| NG_007076.1:g.8498T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1409T>G | ENSP00000518840.1:p.Phe470Cys | |
| ENST00000713545.1:c.*333T>G | ENSP00000518841.1:n.*333T>G | |
| ENST00000228606.9:c.1328T>G MANE Select | ENSP00000228606.4:p.Phe443Cys | |
| ENST00000228606.8:c.1328T>G | ENSP00000228606.4:p.Phe443Cys | |
| ENST00000547344.5:n.1467T>G | ||
| NM_000785.3:c.1328T>G | NP_000776.1:p.Phe443Cys | |
| NM_000785.4:c.1328T>G MANE Select | NP_000776.1:p.Phe443Cys |