Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20760002T= , CM000686.2:g.20760002T= | GRCh38 |
| NC_000024.9:g.22921888T= , CM000686.1:g.22921888T= | GRCh37 |
| NC_000024.8:g.21331276T= | NCBI36 |
| NG_032924.1:g.8935T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.216T= MANE Select | ENSP00000486252.1:p.Ile72= | |
| ENST00000629237.1:c.216T= | ENSP00000486252.1:p.Ile72= | |
| NM_001039567.2:c.216T= | NP_001034656.1:p.Ile72= | |
| XM_011531423.1:c.165T= | XP_011529725.1:p.Ile55= | |
| NM_001039567.3:c.216T= MANE Select | NP_001034656.1:p.Ile72= |