Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73368127G= , CM000677.2:g.73368127G= | GRCh38 |
| NC_000015.9:g.73660468G= , CM000677.1:g.73660468G= | GRCh37 |
| NC_000015.8:g.71447521G= | NCBI36 |
| NG_009063.1:g.6138C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.144C= MANE Select | ENSP00000261917.3:p.Ile48= | |
| ENST00000261917.3:c.144C= | ENSP00000261917.3:p.Ile48= | |
| NM_005477.2:c.144C= | NP_005468.1:p.Ile48= | |
| NM_005477.3:c.144C= MANE Select | NP_005468.1:p.Ile48= |