Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84399692T>A , CM000663.2:g.84399692T>A | GRCh38 |
| NC_000001.10:g.84865375T>A , CM000663.1:g.84865375T>A | GRCh37 |
| NC_000001.9:g.84637963T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370665.4:c.125+1003T>A MANE Select | ENSP00000359699.3:n.125+1003T>A | |
| ENST00000370665.3:c.125+1003T>A | ENSP00000359699.3:n.125+1003T>A | |
| NM_021233.2:c.125+1003T>A | NP_067056.2:n.125+1003T>A | |
| NM_021233.3:c.125+1003T>A MANE Select | NP_067056.2:n.125+1003T>A |