Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184186A>C , CM000667.2:g.67184186A>C | GRCh38 |
| NC_000005.9:g.66480014A>C , CM000667.1:g.66480014A>C | GRCh37 |
| NC_000005.8:g.66515770A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.657T>G MANE Select | ENSP00000256447.4:p.Phe219Leu | |
| NM_005582.2:c.657T>G | NP_005573.2:p.Phe219Leu | |
| XM_005248504.3:c.618T>G | XP_005248561.1:p.Phe206Leu | |
| XM_005248504.4:c.618T>G | XP_005248561.1:p.Phe206Leu | |
| NM_005582.3:c.657T>G MANE Select | NP_005573.2:p.Phe219Leu |