Linked Data
dbSNP Id:
rs1697144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184176T>G , CM000667.2:g.67184176T>G | GRCh38 |
| NC_000005.9:g.66480004T>G , CM000667.1:g.66480004T>G | GRCh37 |
| NC_000005.8:g.66515760T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256447.5:c.667A>C MANE Select | ENSP00000256447.4:p.Ile223Leu | |
| NM_005582.2:c.667A>C | NP_005573.2:p.Ile223Leu | |
| XM_005248504.3:c.628A>C | XP_005248561.1:p.Ile210Leu | |
| XM_005248504.4:c.628A>C | XP_005248561.1:p.Ile210Leu | |
| NM_005582.3:c.667A>C MANE Select | NP_005573.2:p.Ile223Leu |