Linked Data
ClinVar Variation Id:
16162
dbSNP Id:
rs121909723
ExAC:
2:27535899 G / A
gnomAD v2:
2-27535899-G-A
gnomAD v3:
2-27313032-G-A
gnomAD v4:
2-27313032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27313032G>A , CM000664.2:g.27313032G>A | GRCh38 |
| NC_000002.11:g.27535899G>A , CM000664.1:g.27535899G>A | GRCh37 |
| NC_000002.10:g.27389403G>A | NCBI36 |
| NG_008075.1:g.14533C>T | |
| NG_033055.1:g.232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.148C>T MANE Select | ENSP00000369383.1:p.Arg50Trp | |
| ENST00000233545.6:c.148C>T | ENSP00000233545.2:p.Arg50Trp | |
| ENST00000357186.10:c.19-260C>T | ENSP00000349713.6:n.19-260C>T | |
| ENST00000380044.5:c.148C>T | ENSP00000369383.1:p.Arg50Trp | |
| ENST00000402310.5:c.148C>T | ENSP00000383955.1:p.Arg50Trp | |
| ENST00000402722.5:c.113C>T | ENSP00000386000.1:p.Pro38Leu | |
| ENST00000403262.6:c.148C>T | ENSP00000385671.1:p.Arg50Trp | |
| ENST00000405076.5:c.148C>T | ENSP00000385175.1:p.Arg50Trp | |
| ENST00000405983.5:c.193C>T | ENSP00000384586.1:p.Arg65Trp | |
| ENST00000415514.5:c.228-260C>T | ENSP00000388043.1:n.228-260C>T | |
| ENST00000426513.6:c.113C>T | ENSP00000403824.2:p.Pro38Leu | |
| ENST00000428910.5:c.70C>T | ENSP00000405235.1:p.Arg24Trp | |
| ENST00000430991.5:c.78C>T | ||
| ENST00000616446.1:n.125C>T | ||
| ENST00000616707.1:n.356C>T | ||
| ENST00000617583.4:n.174C>T | ||
| ENST00000621183.4:n.204C>T | ||
| ENST00000621470.4:n.164C>T | ||
| ENST00000622003.4:n.321C>T | ||
| NM_002437.4:c.148C>T | NP_002428.1:p.Arg50Trp | |
| XM_005264326.2:c.148C>T | XP_005264383.1:p.Arg50Trp | |
| XM_005264327.2:c.-12C>T | XP_005264384.1:n.-12C>T | |
| XM_006712021.2:c.100C>T | XP_006712084.1:p.Arg34Trp | |
| XM_005264326.4:c.148C>T | XP_005264383.1:p.Arg50Trp | |
| XM_006712021.3:c.100C>T | XP_006712084.1:p.Arg34Trp | |
| XM_017004150.1:c.130C>T | XP_016859639.1:p.Arg44Trp | |
| XM_017004151.1:c.100C>T | XP_016859640.1:p.Arg34Trp | |
| XM_017004152.1:c.-12C>T | XP_016859641.1:n.-12C>T | |
| XM_024452913.1:c.100C>T | XP_024308681.1:p.Arg34Trp | |
| NM_002437.5:c.148C>T MANE Select | NP_002428.1:p.Arg50Trp |