Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184088A>G , CM000667.2:g.67184088A>G | GRCh38 |
| NC_000005.9:g.66479916A>G , CM000667.1:g.66479916A>G | GRCh37 |
| NC_000005.8:g.66515672A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.755T>C MANE Select | ENSP00000256447.4:p.Leu252Pro | |
| NM_005582.2:c.755T>C | NP_005573.2:p.Leu252Pro | |
| XM_005248504.3:c.716T>C | XP_005248561.1:p.Leu239Pro | |
| XM_005248504.4:c.716T>C | XP_005248561.1:p.Leu239Pro | |
| NM_005582.3:c.755T>C MANE Select | NP_005573.2:p.Leu252Pro |