Linked Data
dbSNP Id:
rs978200089
gnomAD v2:
5-56177574-C-G
gnomAD v3:
5-56881747-C-G
gnomAD v4:
5-56881747-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881747C>G , CM000667.2:g.56881747C>G | GRCh38 |
| NC_000005.9:g.56177574C>G , CM000667.1:g.56177574C>G | GRCh37 |
| NC_000005.8:g.56213331C>G | NCBI36 |
| NG_031884.1:g.71675C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2547C>G MANE Select | ENSP00000382423.3:p.Phe849Leu | |
| ENST00000399503.3:c.2547C>G | ENSP00000382423.3:p.Phe849Leu | |
| NM_005921.1:c.2547C>G | NP_005912.1:p.Phe849Leu | |
| XM_005248519.3:c.2169C>G | XP_005248576.2:p.Phe723Leu | |
| XM_011543406.1:c.2292C>G | XP_011541708.1:p.Phe764Leu | |
| XM_011543407.1:c.2268C>G | XP_011541709.1:p.Phe756Leu | |
| XM_011543408.1:c.2547C>G | XP_011541710.1:p.Phe849Leu | |
| XM_017009484.1:c.2136C>G | XP_016864973.1:p.Phe712Leu | |
| XM_017009485.1:c.2058C>G | XP_016864974.1:p.Phe686Leu | |
| XR_001742068.2:n.2578C>G | ||
| NM_005921.2:c.2547C>G MANE Select | NP_005912.1:p.Phe849Leu |