Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93239636G>T , CM000675.2:g.93239636G>T | GRCh38 |
| NC_000013.10:g.93891889G>T , CM000675.1:g.93891889G>T | GRCh37 |
| NC_000013.9:g.92689890G>T | NCBI36 |
| NG_011880.1:g.17812G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.160+12020G>T MANE Select | ENSP00000366246.3:n.160+12020G>T | |
| ENST00000377047.8:c.160+12020G>T | ENSP00000366246.3:n.160+12020G>T | |
| NM_005708.3:c.160+12020G>T | NP_005699.1:n.160+12020G>T | |
| NM_005708.4:c.160+12020G>T | NP_005699.1:n.160+12020G>T | |
| NM_005708.5:c.160+12020G>T MANE Select | NP_005699.1:n.160+12020G>T |