Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.761870G>A , CM000669.2:g.761870G>A | GRCh38 |
| NC_000007.13:g.801507G>A , CM000669.1:g.801507G>A | GRCh37 |
| NC_000007.12:g.768033G>A | NCBI36 |
| NG_033137.1:g.40170G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.1588G>A MANE Select | NP_060272.3:p.Ala530Thr |
| ENST00000297440.11:c.1588G>A MANE Select | ENSP00000297440.6:p.Ala530Thr |
| NM_017802.3:c.1588G>A | NP_060272.3:p.Ala530Thr |
| NR_075098.1:n.1546G>A | |
| NR_075098.2:n.1548G>A | |
| ENST00000297440.10:c.1588G>A | ENSP00000297440.6:p.Ala530Thr |
| ENST00000440747.5:c.992G>A | |
| XM_024446813.1:c.1588G>A | XP_024302581.1:p.Ala530Thr |
| XM_024446814.1:c.982G>A | XP_024302582.1:p.Ala328Thr |