Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367779C>T , CM000677.2:g.73367779C>T | GRCh38 |
| NC_000015.9:g.73660120C>T , CM000677.1:g.73660120C>T | GRCh37 |
| NC_000015.8:g.71447173C>T | NCBI36 |
| NG_009063.1:g.6486G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.492G>A MANE Select | ENSP00000261917.3:p.Ser164= | |
| ENST00000261917.3:c.492G>A | ENSP00000261917.3:p.Ser164= | |
| NM_005477.2:c.492G>A | NP_005468.1:p.Ser164= | |
| NM_005477.3:c.492G>A MANE Select | NP_005468.1:p.Ser164= |