Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.32680517C>T , CM000680.2:g.32680517C>T | GRCh38 |
| NC_000018.9:g.30260480C>T , CM000680.1:g.30260480C>T | GRCh37 |
| NC_000018.8:g.28514478C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020805.3:c.1321G>A MANE Select | NP_065856.1:p.Val441Met |
| ENST00000359358.9:c.1321G>A MANE Select | ENSP00000352314.4:p.Val441Met |
| NM_020805.1:c.1321G>A | NP_065856.1:p.Val441Met |
| NM_020805.2:c.1321G>A | NP_065856.1:p.Val441Met |
| ENST00000359358.8:c.1321G>A | ENSP00000352314.4:p.Val441Met |
| XM_011526108.1:c.1414G>A | XP_011524410.1:p.Val472Met |