Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703183G>A , CM000677.2:g.66703183G>A | GRCh38 |
| NC_000015.9:g.66995521G>A , CM000677.1:g.66995521G>A | GRCh37 |
| NC_000015.8:g.64782575G>A | NCBI36 |
| NG_012244.1:g.5848G>A | |
| NG_012244.2:g.5848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.-76G>A MANE Select | ENSP00000288840.5:n.-76G>A | |
| ENST00000288840.9:c.-76G>A | ENSP00000288840.5:n.-76G>A | |
| ENST00000612349.1:n.107G>A | ||
| NM_005585.4:c.-76G>A | NP_005576.3:n.-76G>A | |
| NR_027654.1:n.848G>A | ||
| XR_931825.1:n.1084G>A | ||
| XR_931826.1:n.1084G>A | ||
| XR_931827.1:n.1084G>A | ||
| XR_931827.2:n.1074G>A | ||
| NM_005585.5:c.-76G>A MANE Select | NP_005576.3:n.-76G>A | |
| NR_027654.2:n.948G>A |