Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38252972G>A , CM000677.2:g.38252972G>A | GRCh38 |
| NC_000015.9:g.38545173G>A , CM000677.1:g.38545173G>A | GRCh37 |
| NC_000015.8:g.36332465G>A | NCBI36 |
| NG_008980.1:g.5122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-214G>A MANE Select | ENSP00000299084.4:n.-214G>A | |
| ENST00000299084.8:c.-214G>A | ENSP00000299084.4:n.-214G>A | |
| ENST00000561205.1:n.125G>A | ||
| NM_152594.2:c.-214G>A | NP_689807.1:n.-214G>A | |
| XM_005254202.2:c.-214G>A | XP_005254259.1:n.-214G>A | |
| XM_005254203.3:c.-261G>A | XP_005254260.1:n.-261G>A | |
| XM_005254202.3:c.-214G>A | XP_005254259.1:n.-214G>A | |
| XR_001751484.1:n.87+595C>T | ||
| NM_152594.3:c.-214G>A MANE Select | NP_689807.1:n.-214G>A |