Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64746810T>C , CM000673.2:g.64746810T>C | GRCh38 |
| NC_000011.9:g.64514282T>C , CM000673.1:g.64514282T>C | GRCh37 |
| NC_000011.8:g.64270858T>C | NCBI36 |
| NG_007574.1:g.3647A>G , LRG_100:g.3647A>G | |
| NG_013018.1:g.18906A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.2380-2A>G MANE Select | NP_005600.1:n.2380-2A>G |
| ENST00000164139.4:c.2380-2A>G MANE Select | ENSP00000164139.3:n.2380-2A>G |
| NM_001164716.1:c.2116-2A>G | NP_001158188.1:n.2116-2A>G |
| NM_005609.2:c.2380-2A>G | NP_005600.1:n.2380-2A>G |
| NM_005609.3:c.2380-2A>G | NP_005600.1:n.2380-2A>G |
| ENST00000164139.3:c.2380-2A>G | ENSP00000164139.3:n.2380-2A>G |
| ENST00000377432.7:c.2116-2A>G | ENSP00000366650.3:n.2116-2A>G |
| ENST00000483742.1:n.1733-2A>G |