Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112025392G>T , CM000673.2:g.112025392G>T | GRCh38 |
| NC_000011.9:g.111896116G>T , CM000673.1:g.111896116G>T | GRCh37 |
| NC_000011.8:g.111401326G>T | NCBI36 |
| NG_013342.1:g.5579G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.-81G>T | ENSP00000518862.1:n.-81G>T | |
| ENST00000280346.10:c.-81G>T | ENSP00000280346.6:n.-81G>T | |
| NM_001931.4:c.-81G>T | NP_001922.2:n.-81G>T | |
| XM_011542647.1:c.-81G>T | XP_011540949.1:n.-81G>T | |
| XM_011542647.3:c.-81G>T | XP_011540949.1:n.-81G>T |