Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753684T>C , CM000673.2:g.64753684T>C | GRCh38 |
| NC_000011.9:g.64521156T>C , CM000673.1:g.64521156T>C | GRCh37 |
| NC_000011.8:g.64277732T>C | NCBI36 |
| NG_013018.1:g.12032A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.1240-2A>G MANE Select | NP_005600.1:n.1240-2A>G |
| ENST00000164139.4:c.1240-2A>G MANE Select | ENSP00000164139.3:n.1240-2A>G |
| NM_001164716.1:c.976-2A>G | NP_001158188.1:n.976-2A>G |
| NM_005609.2:c.1240-2A>G | NP_005600.1:n.1240-2A>G |
| NM_005609.3:c.1240-2A>G | NP_005600.1:n.1240-2A>G |
| ENST00000164139.3:c.1240-2A>G | ENSP00000164139.3:n.1240-2A>G |
| ENST00000377432.7:c.976-2A>G | ENSP00000366650.3:n.976-2A>G |
| ENST00000460413.1:n.317-2A>G |