Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16134529C>T , CM000663.2:g.16134529C>T | GRCh38 |
| NC_000001.10:g.16461024C>T , CM000663.1:g.16461024C>T | GRCh37 |
| NC_000001.9:g.16333611C>T | NCBI36 |
| NG_021396.1:g.26559G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.1621G>A MANE Select | NP_004422.2:p.Val541Met |
| ENST00000358432.8:c.1621G>A MANE Select | ENSP00000351209.5:p.Val541Met |
| NM_001329090.1:c.1459G>A | NP_001316019.1:p.Val487Met |
| NM_001329090.2:c.1459G>A | NP_001316019.1:p.Val487Met |
| NM_004431.3:c.1621G>A | NP_004422.2:p.Val541Met |
| NM_004431.4:c.1621G>A | NP_004422.2:p.Val541Met |
| ENST00000358432.7:c.1621G>A | ENSP00000351209.5:p.Val541Met |
| XM_017000537.1:c.1621G>A | XP_016856026.1:p.Val541Met |