Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63559006G>T , CM000672.2:g.63559006G>T | GRCh38 |
| NC_000010.10:g.65318766G>T , CM000672.1:g.65318766G>T | GRCh37 |
| NC_000010.9:g.64988772G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001330.3:c.33-7332G>T MANE Select | NP_001001330.1:n.33-7332G>T |
| ENST00000373758.5:c.33-7332G>T MANE Select | ENSP00000362863.4:n.33-7332G>T |
| NM_001001330.2:c.33-7332G>T | NP_001001330.1:n.33-7332G>T |
| ENST00000373758.4:c.33-7332G>T | ENSP00000362863.4:n.33-7332G>T |
| XM_011539501.1:c.33-7332G>T | XP_011537803.1:n.33-7332G>T |
| XM_011539501.2:c.33-7332G>T | XP_011537803.1:n.33-7332G>T |
| XM_017015896.1:c.33-7332G>T | XP_016871385.1:n.33-7332G>T |