Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.312309A>T , CM000674.2:g.312309A>T | GRCh38 |
| NC_000012.11:g.421475A>T , CM000674.1:g.421475A>T | GRCh37 |
| NC_000012.10:g.291736A>T | NCBI36 |
| NG_046993.1:g.82147T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399788.7:c.3036+747T>A MANE Select | ENSP00000382688.2:n.3036+747T>A | |
| ENST00000382815.8:c.3036+747T>A | ENSP00000372265.5:n.3036+747T>A | |
| ENST00000399788.6:c.3036+747T>A | ENSP00000382688.2:n.3036+747T>A | |
| ENST00000544760.1:c.1893+747T>A | ENSP00000440622.1:n.1893+747T>A | |
| NM_001042603.2:c.3036+747T>A | NP_001036068.1:n.3036+747T>A | |
| NM_001042603.3:c.3036+747T>A MANE Select | NP_001036068.1:n.3036+747T>A |