Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10763882A>G , CM000673.2:g.10763882A>G | GRCh38 |
| NC_000011.9:g.10785429A>G , CM000673.1:g.10785429A>G | GRCh37 |
| NC_000011.8:g.10742005A>G | NCBI36 |
| NG_051671.1:g.17896A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014633.5:c.1194+3A>G MANE Select | NP_055448.1:n.1194+3A>G |
| ENST00000361367.7:c.1194+3A>G MANE Select | ENSP00000355013.2:n.1194+3A>G |
| NM_001346279.1:c.1194+3A>G | NP_001333208.1:n.1194+3A>G |
| NM_001346279.2:c.1194+3A>G | NP_001333208.1:n.1194+3A>G |
| NM_014633.4:c.1194+3A>G | NP_055448.1:n.1194+3A>G |
| ENST00000361367.6:c.1194+3A>G | ENSP00000355013.2:n.1194+3A>G |