Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40762979A>G , CM000681.2:g.40762979A>G | GRCh38 |
| NC_000019.9:g.41268884A>G , CM000681.1:g.41268884A>G | GRCh37 |
| NC_000019.8:g.45960724A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243563.8:c.505A>G MANE Select | ENSP00000243563.2:p.Met169Val | |
| ENST00000243563.7:c.505A>G | ENSP00000243563.2:p.Met169Val | |
| ENST00000598923.1:n.640A>G | ||
| ENST00000601393.1:c.442A>G | ENSP00000472355.1:p.Met148Val | |
| ENST00000601545.5:c.355A>G | ENSP00000470534.1:p.Met119Val | |
| NM_004596.4:c.505A>G | NP_004587.1:p.Met169Val | |
| NM_004596.5:c.505A>G MANE Select | NP_004587.1:p.Met169Val |