Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6872699T>A , CM000686.2:g.6872699T>A | GRCh38 |
| NC_000024.9:g.6740740T>A , CM000686.1:g.6740740T>A | GRCh37 |
| NC_000024.8:g.6800740T>A | NCBI36 |
| NG_008011.1:g.6329A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651267.2:c.-12-79A>T MANE Select | ENSP00000498344.1:n.-12-79A>T | |
| ENST00000215479.10:c.-12-79A>T | ENSP00000215479.5:n.-12-79A>T | |
| ENST00000651267.1:c.-12-79A>T | ENSP00000498344.1:n.-12-79A>T | |
| ENST00000215479.9:c.-12-79A>T | ENSP00000215479.5:n.-12-79A>T | |
| NM_001143.1:c.-12-79A>T | NP_001134.1:n.-12-79A>T | |
| XM_011531472.1:c.-12-79A>T | XP_011529774.1:n.-12-79A>T | |
| NM_001364814.1:c.-12-79A>T | NP_001351743.1:n.-12-79A>T | |
| NM_001143.2:c.-12-79A>T MANE Select | NP_001134.1:n.-12-79A>T |