Linked Data
ClinVar Variation Id:
214660
dbSNP Id:
rs863224072
gnomAD v2:
2-27535926-G-A
gnomAD v3:
2-27313059-G-A
gnomAD v4:
2-27313059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27313059G>A , CM000664.2:g.27313059G>A | GRCh38 |
| NC_000002.11:g.27535926G>A , CM000664.1:g.27535926G>A | GRCh37 |
| NC_000002.10:g.27389430G>A | NCBI36 |
| NG_008075.1:g.14506C>T | |
| NG_033055.1:g.205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.121C>T MANE Select | ENSP00000369383.1:p.Arg41Trp | |
| ENST00000233545.6:c.121C>T | ENSP00000233545.2:p.Arg41Trp | |
| ENST00000357186.10:c.19-287C>T | ENSP00000349713.6:n.19-287C>T | |
| ENST00000380044.5:c.121C>T | ENSP00000369383.1:p.Arg41Trp | |
| ENST00000402310.5:c.121C>T | ENSP00000383955.1:p.Arg41Trp | |
| ENST00000402722.5:c.86C>T | ENSP00000386000.1:p.Ala29Val | |
| ENST00000403262.6:c.121C>T | ENSP00000385671.1:p.Arg41Trp | |
| ENST00000405076.5:c.121C>T | ENSP00000385175.1:p.Arg41Trp | |
| ENST00000405983.5:c.166C>T | ENSP00000384586.1:p.Arg56Trp | |
| ENST00000415514.5:c.228-287C>T | ENSP00000388043.1:n.228-287C>T | |
| ENST00000426513.6:c.86C>T | ENSP00000403824.2:p.Ala29Val | |
| ENST00000428910.5:c.43C>T | ENSP00000405235.1:p.Arg15Trp | |
| ENST00000430991.5:c.51C>T | ||
| ENST00000616446.1:n.98C>T | ||
| ENST00000616707.1:n.329C>T | ||
| ENST00000617583.4:n.147C>T | ||
| ENST00000621183.4:n.177C>T | ||
| ENST00000621470.4:n.137C>T | ||
| ENST00000622003.4:n.294C>T | ||
| NM_002437.4:c.121C>T | NP_002428.1:p.Arg41Trp | |
| XM_005264326.2:c.121C>T | XP_005264383.1:p.Arg41Trp | |
| XM_005264327.2:c.-39C>T | XP_005264384.1:n.-39C>T | |
| XM_006712021.2:c.73C>T | XP_006712084.1:p.Arg25Trp | |
| XM_005264326.4:c.121C>T | XP_005264383.1:p.Arg41Trp | |
| XM_006712021.3:c.73C>T | XP_006712084.1:p.Arg25Trp | |
| XM_017004150.1:c.103C>T | XP_016859639.1:p.Arg35Trp | |
| XM_017004151.1:c.73C>T | XP_016859640.1:p.Arg25Trp | |
| XM_017004152.1:c.-39C>T | XP_016859641.1:n.-39C>T | |
| XM_024452913.1:c.73C>T | XP_024308681.1:p.Arg25Trp | |
| NM_002437.5:c.121C>T MANE Select | NP_002428.1:p.Arg41Trp |