Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232481159G>C , CM000664.2:g.232481159G>C | GRCh38 |
| NC_000002.11:g.233345869G>C , CM000664.1:g.233345869G>C | GRCh37 |
| NC_000002.10:g.233054113G>C | NCBI36 |
| NG_034065.1:g.11701C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004826.4:c.1990-3C>G MANE Select | NP_004817.2:n.1990-3C>G |
| ENST00000304546.6:c.1990-3C>G MANE Select | ENSP00000302051.1:n.1990-3C>G |
| NM_001290787.1:c.1984-3C>G | NP_001277716.1:n.1984-3C>G |
| NM_001290787.2:c.1984-3C>G | NP_001277716.1:n.1984-3C>G |
| NM_004826.3:c.1990-3C>G | NP_004817.2:n.1990-3C>G |
| ENST00000304546.5:c.1990-3C>G | ENSP00000302051.1:n.1990-3C>G |
| ENST00000409941.1:c.1984-3C>G | ENSP00000386333.1:n.1984-3C>G |
| ENST00000411860.5:c.235-346C>G | ENSP00000412683.1:n.235-346C>G |
| ENST00000482346.1:n.2301-3C>G |