Linked Data
ClinVar Variation Id:
16160
dbSNP Id:
rs121909721
gnomAD v2:
2-27535898-C-T
gnomAD v4:
2-27313031-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27313031C>T , CM000664.2:g.27313031C>T | GRCh38 |
| NC_000002.11:g.27535898C>T , CM000664.1:g.27535898C>T | GRCh37 |
| NC_000002.10:g.27389402C>T | NCBI36 |
| NG_008075.1:g.14534G>A | |
| NG_033055.1:g.233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.149G>A MANE Select | ENSP00000369383.1:p.Arg50Gln | |
| ENST00000233545.6:c.149G>A | ENSP00000233545.2:p.Arg50Gln | |
| ENST00000357186.10:c.19-259G>A | ENSP00000349713.6:n.19-259G>A | |
| ENST00000380044.5:c.149G>A | ENSP00000369383.1:p.Arg50Gln | |
| ENST00000402310.5:c.149G>A | ENSP00000383955.1:p.Arg50Gln | |
| ENST00000402722.5:c.114G>A | ENSP00000386000.1:p.Pro38= | |
| ENST00000403262.6:c.149G>A | ENSP00000385671.1:p.Arg50Gln | |
| ENST00000405076.5:c.149G>A | ENSP00000385175.1:p.Arg50Gln | |
| ENST00000405983.5:c.194G>A | ENSP00000384586.1:p.Arg65Gln | |
| ENST00000415514.5:c.228-259G>A | ENSP00000388043.1:n.228-259G>A | |
| ENST00000426513.6:c.114G>A | ENSP00000403824.2:p.Pro38= | |
| ENST00000428910.5:c.71G>A | ENSP00000405235.1:p.Arg24Gln | |
| ENST00000430991.5:c.79G>A | ||
| ENST00000616446.1:n.126G>A | ||
| ENST00000616707.1:n.357G>A | ||
| ENST00000617583.4:n.175G>A | ||
| ENST00000621183.4:n.205G>A | ||
| ENST00000621470.4:n.165G>A | ||
| ENST00000622003.4:n.322G>A | ||
| NM_002437.4:c.149G>A | NP_002428.1:p.Arg50Gln | |
| XM_005264326.2:c.149G>A | XP_005264383.1:p.Arg50Gln | |
| XM_005264327.2:c.-11G>A | XP_005264384.1:n.-11G>A | |
| XM_006712021.2:c.101G>A | XP_006712084.1:p.Arg34Gln | |
| XM_005264326.4:c.149G>A | XP_005264383.1:p.Arg50Gln | |
| XM_006712021.3:c.101G>A | XP_006712084.1:p.Arg34Gln | |
| XM_017004150.1:c.131G>A | XP_016859639.1:p.Arg44Gln | |
| XM_017004151.1:c.101G>A | XP_016859640.1:p.Arg34Gln | |
| XM_017004152.1:c.-11G>A | XP_016859641.1:n.-11G>A | |
| XM_024452913.1:c.101G>A | XP_024308681.1:p.Arg34Gln | |
| NM_002437.5:c.149G>A MANE Select | NP_002428.1:p.Arg50Gln |