Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.312228T>A , CM000674.2:g.312228T>A | GRCh38 |
| NC_000012.11:g.421394T>A , CM000674.1:g.421394T>A | GRCh37 |
| NC_000012.10:g.291655T>A | NCBI36 |
| NG_046993.1:g.82228A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001042603.3:c.3036+828A>T MANE Select | NP_001036068.1:n.3036+828A>T |
| ENST00000399788.7:c.3036+828A>T MANE Select | ENSP00000382688.2:n.3036+828A>T |
| NM_001042603.2:c.3036+828A>T | NP_001036068.1:n.3036+828A>T |
| ENST00000382815.8:c.3036+828A>T | ENSP00000372265.5:n.3036+828A>T |
| ENST00000399788.6:c.3036+828A>T | ENSP00000382688.2:n.3036+828A>T |
| ENST00000544760.1:c.1893+828A>T | ENSP00000440622.1:n.1893+828A>T |