Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186931C>A , CM000669.2:g.98186931C>A | GRCh38 |
| NC_000007.13:g.97816243C>A , CM000669.1:g.97816243C>A | GRCh37 |
| NC_000007.12:g.97654179C>A | NCBI36 |
| NG_013375.1:g.85047C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.931C>A MANE Select | ENSP00000297293.5:p.Pro311Thr | |
| ENST00000297293.5:c.931C>A | ENSP00000297293.5:p.Pro311Thr | |
| NM_014916.3:c.931C>A | NP_055731.2:p.Pro311Thr | |
| XM_011515981.1:c.925C>A | XP_011514283.1:p.Pro309Thr | |
| XM_011515981.3:c.925C>A | XP_011514283.1:p.Pro309Thr | |
| NM_014916.4:c.931C>A MANE Select | NP_055731.2:p.Pro311Thr |