Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541561G>A , CM000664.2:g.232541561G>A | GRCh38 |
| NC_000002.11:g.233406271G>A , CM000664.1:g.233406271G>A | GRCh37 |
| NC_000002.10:g.233114515G>A | NCBI36 |
| NG_012954.1:g.6835G>A | |
| NG_012954.2:g.6870G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.506+32G>A MANE Select | ENSP00000498757.1:n.506+32G>A | |
| ENST00000389492.3:c.350+850G>A | ENSP00000374143.3:n.350+850G>A | |
| ENST00000389494.7:c.506+32G>A | ENSP00000374145.3:n.506+32G>A | |
| ENST00000485094.1:n.559G>A | ||
| NM_005199.4:c.506+32G>A | NP_005190.4:n.506+32G>A | |
| NM_005199.5:c.506+32G>A MANE Select | NP_005190.4:n.506+32G>A |