Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744750T= , CM000679.2:g.47744750T= | GRCh38 |
| NC_000017.10:g.45822116T= , CM000679.1:g.45822116T= | GRCh37 |
| NC_000017.9:g.43177115T= | NCBI36 |
| NG_012166.1:g.16507T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.992T= MANE Select | ENSP00000177694.1:p.Met331= | |
| ENST00000177694.1:c.992T= | ENSP00000177694.1:p.Met331= | |
| NM_013351.1:c.992T= | NP_037483.1:p.Met331= | |
| XM_011524698.1:c.1055T= | XP_011523000.1:p.Met352= | |
| XM_011524699.1:c.659T= | XP_011523001.1:p.Met220= | |
| NM_013351.2:c.992T= MANE Select | NP_037483.1:p.Met331= |