Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125734A>G , CM000668.2:g.31125734A>G | GRCh38 |
| NC_000006.11:g.31093511A>G , CM000668.1:g.31093511A>G | GRCh37 |
| NC_000006.10:g.31201490A>G | NCBI36 |
| NG_021348.1:g.15904A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-170A>G MANE Select | ENSP00000259881.9:n.-170A>G | |
| ENST00000259881.9:c.-170A>G | ENSP00000259881.9:n.-170A>G | |
| ENST00000479581.5:n.61+10843A>G | ||
| ENST00000548049.1:n.175A>G | ||
| ENST00000550838.1:n.59-5A>G | ||
| ENST00000552747.1:n.53+10843A>G | ||
| NM_014068.2:c.-170A>G | NP_054787.2:n.-170A>G | |
| NM_014068.3:c.-170A>G MANE Select | NP_054787.2:n.-170A>G |