Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122732786G>T , CM000666.2:g.122732786G>T | GRCh38 |
| NC_000004.11:g.123653941G>T , CM000666.1:g.123653941G>T | GRCh37 |
| NC_000004.10:g.123873391G>T | NCBI36 |
| NG_021203.1:g.5085G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152618.3:c.-109G>T MANE Select | NP_689831.2:n.-109G>T |
| ENST00000314218.8:c.-109G>T MANE Select | ENSP00000319062.3:n.-109G>T |
| NM_001178007.1:c.-297G>T | NP_001171478.1:n.-297G>T |
| NM_001178007.2:c.-297G>T | NP_001171478.1:n.-297G>T |
| NM_152618.2:c.-109G>T | NP_689831.2:n.-109G>T |
| ENST00000314218.7:c.-109G>T | ENSP00000319062.3:n.-109G>T |
| ENST00000542236.5:c.-297G>T | ENSP00000438273.1:n.-297G>T |
| XM_011531680.1:c.-10-9097G>T | XP_011529982.1:n.-10-9097G>T |
| XM_011531680.2:c.-10-9097G>T | XP_011529982.1:n.-10-9097G>T |