Linked Data
dbSNP Id:
rs1812450502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145088G>C , CM000670.2:g.96145088G>C | GRCh38 |
| NC_000008.10:g.97157316G>C , CM000670.1:g.97157316G>C | GRCh37 |
| NC_000008.9:g.97226492G>C | NCBI36 |
| NG_008981.1:g.20705C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.843C>G MANE Select | ENSP00000287020.4:p.Phe281Leu | |
| ENST00000287020.6:c.843C>G | ENSP00000287020.4:p.Phe281Leu | |
| ENST00000620978.1:c.781C>G | ENSP00000480170.1:p.His261Asp | |
| ENST00000621429.1:c.843C>G | ENSP00000483711.1:p.Phe281Leu | |
| NM_001001557.2:c.843C>G | NP_001001557.1:p.Phe281Leu | |
| XM_011517030.1:c.444C>G | XP_011515332.1:p.Phe148Leu | |
| NM_001001557.3:c.843C>G | NP_001001557.1:p.Phe281Leu | |
| NM_001001557.4:c.843C>G MANE Select | NP_001001557.1:p.Phe281Leu |