Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647832G>A , CM000673.2:g.69647832G>A | GRCh38 |
| NC_000011.9:g.69462600G>A , CM000673.1:g.69462600G>A | GRCh37 |
| NC_000011.8:g.69171781G>A | NCBI36 |
| NG_007375.1:g.11728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.575-162G>A MANE Select | ENSP00000227507.2:n.575-162G>A | |
| ENST00000227507.2:c.575-162G>A | ENSP00000227507.2:n.575-162G>A | |
| ENST00000536559.1:c.199-162G>A | ENSP00000438482.1:n.199-162G>A | |
| ENST00000545484.1:n.281-162G>A | ||
| NM_053056.2:c.575-162G>A | NP_444284.1:n.575-162G>A | |
| XM_006718653.2:c.599-162G>A | XP_006718716.1:n.599-162G>A | |
| NM_053056.3:c.575-162G>A MANE Select | NP_444284.1:n.575-162G>A |