Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352618A>C , CM000671.2:g.133352618A>C | GRCh38 |
| NC_000009.10:g.135209294A>C | NCBI36 |
| NG_008477.1:g.8889T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.589-10T>G MANE Select | ENSP00000361042.3:n.589-10T>G | |
| ENST00000371974.7:c.589-10T>G | ENSP00000361042.3:n.589-10T>G | |
| ENST00000437995.1:n.499-10T>G | ||
| ENST00000495952.5:n.579-10T>G | ||
| ENST00000615505.4:c.262-10T>G | ENSP00000482067.1:n.262-10T>G | |
| NM_001280787.1:c.262-10T>G | NP_001267716.1:n.262-10T>G | |
| NM_003172.3:c.589-10T>G | NP_003163.1:n.589-10T>G | |
| XM_011518942.1:c.262-10T>G | XP_011517244.1:n.262-10T>G | |
| NM_003172.4:c.589-10T>G MANE Select | NP_003163.1:n.589-10T>G |