Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343772C>A , CM000677.2:g.73343772C>A | GRCh38 |
| NC_000015.9:g.73636113C>A , CM000677.1:g.73636113C>A | GRCh37 |
| NC_000015.8:g.71423166C>A | NCBI36 |
| NG_009063.1:g.30493G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.822G>T MANE Select | NP_005468.1:p.Val274= |
| ENST00000261917.4:c.822G>T MANE Select | ENSP00000261917.3:p.Val274= |
| NM_005477.2:c.822G>T | NP_005468.1:p.Val274= |
| ENST00000261917.3:c.822G>T | ENSP00000261917.3:p.Val274= |