Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125792A>G , CM000668.2:g.31125792A>G | GRCh38 |
| NC_000006.11:g.31093569A>G , CM000668.1:g.31093569A>G | GRCh37 |
| NC_000006.10:g.31201548A>G | NCBI36 |
| NG_021348.1:g.15962A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-112A>G MANE Select | ENSP00000259881.9:n.-112A>G | |
| ENST00000259881.9:c.-112A>G | ENSP00000259881.9:n.-112A>G | |
| ENST00000479581.5:n.61+10901A>G | ||
| ENST00000548049.1:n.233A>G | ||
| ENST00000550838.1:n.112A>G | ||
| ENST00000552747.1:n.53+10901A>G | ||
| NM_014068.2:c.-112A>G | NP_054787.2:n.-112A>G | |
| NM_014068.3:c.-112A>G MANE Select | NP_054787.2:n.-112A>G |