Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159280T>C , CM000663.2:g.204159280T>C | GRCh38 |
| NC_000001.10:g.204128408T>C , CM000663.1:g.204128408T>C | GRCh37 |
| NC_000001.9:g.202395031T>C | NCBI36 |
| NG_012122.1:g.12058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.689+119A>G MANE Select | ENSP00000272190.8:n.689+119A>G | |
| ENST00000638118.1:c.575+119A>G | ENSP00000490307.1:n.575+119A>G | |
| ENST00000272190.8:c.689+119A>G | ENSP00000272190.8:n.689+119A>G | |
| NM_000537.3:c.689+119A>G | NP_000528.1:n.689+119A>G | |
| NM_000537.4:c.689+119A>G MANE Select | NP_000528.1:n.689+119A>G |