Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352768T>C , CM000671.2:g.133352768T>C | GRCh38 |
| NC_000009.10:g.135209444T>C | NCBI36 |
| NG_008477.1:g.8739A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.516-2A>G MANE Select | NP_003163.1:n.516-2A>G |
| ENST00000371974.8:c.516-2A>G MANE Select | ENSP00000361042.3:n.516-2A>G |
| NM_001280787.1:c.189-2A>G | NP_001267716.1:n.189-2A>G |
| NM_003172.3:c.516-2A>G | NP_003163.1:n.516-2A>G |
| ENST00000371974.7:c.516-2A>G | ENSP00000361042.3:n.516-2A>G |
| ENST00000437995.1:n.462-38A>G | |
| ENST00000495952.5:n.506-2A>G | |
| ENST00000615505.4:c.189-2A>G | ENSP00000482067.1:n.189-2A>G |
| XM_011518942.1:c.189-2A>G | XP_011517244.1:n.189-2A>G |