Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134149217G>T , CM000673.2:g.134149217G>T | GRCh38 |
| NC_000011.9:g.134019112G>T , CM000673.1:g.134019112G>T | GRCh37 |
| NC_000011.8:g.133524322G>T | NCBI36 |
| NG_028348.1:g.85293G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032801.5:c.*36G>T MANE Select | NP_116190.3:n.*36G>T |
| ENST00000299106.9:c.*36G>T MANE Select | ENSP00000299106.4:n.*36G>T |
| NM_001205329.1:c.*36G>T | NP_001192258.1:n.*36G>T |
| NM_001205329.2:c.*36G>T | NP_001192258.1:n.*36G>T |
| NM_032801.4:c.*36G>T | NP_116190.3:n.*36G>T |
| ENST00000299106.8:c.*36G>T | ENSP00000299106.4:n.*36G>T |
| ENST00000441717.3:c.*36G>T | ENSP00000395742.3:n.*36G>T |