Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759976A= , CM000686.2:g.20759976A= | GRCh38 |
| NC_000024.9:g.22921862A= , CM000686.1:g.22921862A= | GRCh37 |
| NC_000024.8:g.21331250A= | NCBI36 |
| NG_032924.1:g.8909A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.190A= MANE Select | ENSP00000486252.1:p.Ile64= | |
| ENST00000629237.1:c.190A= | ENSP00000486252.1:p.Ile64= | |
| NM_001039567.2:c.190A= | NP_001034656.1:p.Ile64= | |
| XM_011531423.1:c.139A= | XP_011529725.1:p.Ile47= | |
| NM_001039567.3:c.190A= MANE Select | NP_001034656.1:p.Ile64= |