Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232480259T>G , CM000664.2:g.232480259T>G | GRCh38 |
| NC_000002.11:g.233344969T>G , CM000664.1:g.233344969T>G | GRCh37 |
| NC_000002.10:g.233053213T>G | NCBI36 |
| NG_034065.1:g.12601A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004826.4:c.2229-7A>C MANE Select | NP_004817.2:n.2229-7A>C |
| ENST00000304546.6:c.2229-7A>C MANE Select | ENSP00000302051.1:n.2229-7A>C |
| NM_001290787.1:c.2223-7A>C | NP_001277716.1:n.2223-7A>C |
| NM_001290787.2:c.2223-7A>C | NP_001277716.1:n.2223-7A>C |
| NM_004826.3:c.2229-7A>C | NP_004817.2:n.2229-7A>C |
| ENST00000304546.5:c.2229-7A>C | ENSP00000302051.1:n.2229-7A>C |
| ENST00000409941.1:c.2223-7A>C | ENSP00000386333.1:n.2223-7A>C |
| ENST00000411860.5:c.408-7A>C | ENSP00000412683.1:n.408-7A>C |
| ENST00000482346.1:n.2540-7A>C |