Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101320286A>T , CM000665.2:g.101320286A>T | GRCh38 |
| NC_000003.11:g.101039130A>T , CM000665.1:g.101039130A>T | GRCh37 |
| NC_000003.10:g.102521820A>T | NCBI36 |
| NG_028284.1:g.5290T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.85+2T>A MANE Select | ENSP00000193391.6:n.85+2T>A | |
| ENST00000193391.7:c.85+2T>A | ENSP00000193391.6:n.85+2T>A | |
| NM_016247.3:c.85+2T>A | NP_057331.2:n.85+2T>A | |
| XM_011512872.1:c.-780T>A | XP_011511174.1:n.-780T>A | |
| NM_016247.4:c.85+2T>A MANE Select | NP_057331.2:n.85+2T>A |