Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53299762C>G , CM000674.2:g.53299762C>G | GRCh38 |
| NC_000012.11:g.53693546C>G , CM000674.1:g.53693546C>G | GRCh37 |
| NC_000012.10:g.51979813C>G | NCBI36 |
| NG_029695.1:g.9312C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021640.4:c.25C>G MANE Select | NP_067653.4:p.Leu9Val |
| ENST00000267103.10:c.25C>G MANE Select | ENSP00000267103.5:p.Leu9Val |
| NM_021640.3:c.25C>G | NP_067653.3:p.Leu9Val |
| ENST00000267103.9:c.25C>G | ENSP00000267103.5:p.Leu9Val |
| ENST00000548632.5:c.-48C>G | ENSP00000450270.1:n.-48C>G |
| ENST00000548845.5:n.45C>G | |
| ENST00000551670.1:n.13C>G |