Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744750T>A , CM000679.2:g.47744750T>A | GRCh38 |
| NC_000017.10:g.45822116T>A , CM000679.1:g.45822116T>A | GRCh37 |
| NC_000017.9:g.43177115T>A | NCBI36 |
| NG_012166.1:g.16507T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.992T>A MANE Select | ENSP00000177694.1:p.Met331Lys | |
| ENST00000177694.1:c.992T>A | ENSP00000177694.1:p.Met331Lys | |
| NM_013351.1:c.992T>A | NP_037483.1:p.Met331Lys | |
| XM_011524698.1:c.1055T>A | XP_011523000.1:p.Met352Lys | |
| XM_011524699.1:c.659T>A | XP_011523001.1:p.Met220Lys | |
| NM_013351.2:c.992T>A MANE Select | NP_037483.1:p.Met331Lys |