Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49635584G>C , CM000681.2:g.49635584G>C | GRCh38 |
| NC_000019.9:g.50138841G>C , CM000681.1:g.50138841G>C | GRCh37 |
| NC_000019.8:g.54830653G>C | NCBI36 |
| NG_042222.1:g.9560C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006270.5:c.649C>G MANE Select | NP_006261.1:p.Leu217Val |
| ENST00000246792.4:c.649C>G MANE Select | ENSP00000246792.2:p.Leu217Val |
| NM_006270.3:c.649C>G | NP_006261.1:p.Leu217Val |
| NM_006270.4:c.649C>G | NP_006261.1:p.Leu217Val |
| ENST00000246792.3:c.649C>G | ENSP00000246792.2:p.Leu217Val |