Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100356554A>G , CM000672.2:g.100356554A>G | GRCh38 |
| NC_000010.10:g.102116311A>G , CM000672.1:g.102116311A>G | GRCh37 |
| NC_000010.9:g.102106301A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005063.5:c.670A>G MANE Select | NP_005054.3:p.Met224Val |
| ENST00000370355.3:c.670A>G MANE Select | ENSP00000359380.2:p.Met224Val |
| NM_005063.4:c.670A>G | NP_005054.3:p.Met224Val |
| ENST00000370355.2:c.670A>G | ENSP00000359380.2:p.Met224Val |