Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121843696T>G , CM000674.2:g.121843696T>G | GRCh38 |
| NC_000012.11:g.122281602T>G , CM000674.1:g.122281602T>G | GRCh37 |
| NC_000012.10:g.120765985T>G | NCBI36 |
| NG_016461.1:g.49916A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.954+14A>C MANE Select | NP_002141.2:n.954+14A>C |
| ENST00000289004.8:c.954+14A>C MANE Select | ENSP00000289004.4:n.954+14A>C |
| NM_001171993.1:c.837+14A>C | NP_001165464.1:n.837+14A>C |
| NM_001171993.2:c.837+14A>C | NP_001165464.1:n.837+14A>C |
| NM_002150.2:c.954+14A>C | NP_002141.1:n.954+14A>C |
| ENST00000543163.5:c.837+14A>C | ENSP00000441677.1:n.837+14A>C |