Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.1017168A>G , CM000672.2:g.1017168A>G | GRCh38 |
| NC_000010.10:g.1063108A>G , CM000672.1:g.1063108A>G | GRCh37 |
| NC_000010.9:g.1053108A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012341.3:c.1846A>G MANE Select | NP_036473.2:p.Met616Val |
| ENST00000360803.9:c.1846A>G MANE Select | ENSP00000354040.4:p.Met616Val |
| NM_012341.2:c.1846A>G | NP_036473.2:p.Met616Val |
| ENST00000360803.8:c.1846A>G | ENSP00000354040.4:p.Met616Val |
| ENST00000483839.2:n.567A>G | |
| XM_024447921.1:c.1219A>G | XP_024303689.1:p.Met407Val |