Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64750332G>C , CM000673.2:g.64750332G>C | GRCh38 |
| NC_000011.9:g.64517804G>C , CM000673.1:g.64517804G>C | GRCh37 |
| NC_000011.8:g.64274380G>C | NCBI36 |
| NG_007574.1:g.125C>G , LRG_100:g.125C>G | |
| NG_013018.1:g.15384C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2177+44C>G MANE Select | ENSP00000164139.3:n.2177+44C>G | |
| ENST00000164139.3:c.2177+44C>G | ENSP00000164139.3:n.2177+44C>G | |
| ENST00000377432.7:c.1913+44C>G | ENSP00000366650.3:n.1913+44C>G | |
| NM_001164716.1:c.1913+44C>G | NP_001158188.1:n.1913+44C>G | |
| NM_005609.2:c.2177+44C>G | NP_005600.1:n.2177+44C>G | |
| NM_005609.3:c.2177+44C>G | NP_005600.1:n.2177+44C>G | |
| NM_005609.4:c.2177+44C>G MANE Select | NP_005600.1:n.2177+44C>G |