Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703218G>A , CM000677.2:g.66703218G>A | GRCh38 |
| NC_000015.9:g.66995556G>A , CM000677.1:g.66995556G>A | GRCh37 |
| NC_000015.8:g.64782610G>A | NCBI36 |
| NG_012244.1:g.5883G>A | |
| NG_012244.2:g.5883G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.-41G>A MANE Select | ENSP00000288840.5:n.-41G>A | |
| ENST00000288840.9:c.-41G>A | ENSP00000288840.5:n.-41G>A | |
| ENST00000612349.1:n.142G>A | ||
| NM_005585.4:c.-41G>A | NP_005576.3:n.-41G>A | |
| NR_027654.1:n.883G>A | ||
| XR_931825.1:n.1119G>A | ||
| XR_931826.1:n.1119G>A | ||
| XR_931827.1:n.1119G>A | ||
| XR_931827.2:n.1109G>A | ||
| NM_005585.5:c.-41G>A MANE Select | NP_005576.3:n.-41G>A | |
| NR_027654.2:n.983G>A |