Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.56564597G>A , CM000685.2:g.56564597G>A | GRCh38 |
| NC_000023.10:g.56591030G>A , CM000685.1:g.56591030G>A | GRCh37 |
| NC_000023.9:g.56607755G>A | NCBI36 |
| NG_016249.1:g.6005G>A , LRG_665:g.6005G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013444.4:c.724G>A MANE Select | NP_038472.2:p.Ala242Thr |
| ENST00000338222.7:c.724G>A MANE Select | ENSP00000345195.5:p.Ala242Thr |
| NM_013444.3:c.724G>A , LRG_665t1:c.724G>A | NP_038472.2:p.Ala242Thr |
| ENST00000338222.6:c.724G>A | ENSP00000345195.5:p.Ala242Thr |
| XM_011530837.1:c.273+857G>A | XP_011529139.1:n.273+857G>A |