Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64754838T>G , CM000673.2:g.64754838T>G | GRCh38 |
| NC_000011.9:g.64522310T>G , CM000673.1:g.64522310T>G | GRCh37 |
| NC_000011.8:g.64278886T>G | NCBI36 |
| NG_013018.1:g.10878A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.856-2A>C MANE Select | NP_005600.1:n.856-2A>C |
| ENST00000164139.4:c.856-2A>C MANE Select | ENSP00000164139.3:n.856-2A>C |
| NM_001164716.1:c.592-2A>C | NP_001158188.1:n.592-2A>C |
| NM_005609.2:c.856-2A>C | NP_005600.1:n.856-2A>C |
| NM_005609.3:c.856-2A>C | NP_005600.1:n.856-2A>C |
| ENST00000164139.3:c.856-2A>C | ENSP00000164139.3:n.856-2A>C |
| ENST00000377432.7:c.592-2A>C | ENSP00000366650.3:n.592-2A>C |