Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367680G>A , CM000677.2:g.73367680G>A | GRCh38 |
| NC_000015.9:g.73660021G>A , CM000677.1:g.73660021G>A | GRCh37 |
| NC_000015.8:g.71447074G>A | NCBI36 |
| NG_009063.1:g.6585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.591C>T MANE Select | ENSP00000261917.3:p.Gly197= | |
| ENST00000261917.3:c.591C>T | ENSP00000261917.3:p.Gly197= | |
| NM_005477.2:c.591C>T | NP_005468.1:p.Gly197= | |
| NM_005477.3:c.591C>T MANE Select | NP_005468.1:p.Gly197= |