Linked Data
ClinVar Variation Id:
335527
dbSNP Id:
rs575558175
ExAC:
2:27535883 A / G
gnomAD v2:
2-27535883-A-G
gnomAD v3:
2-27313016-A-G
gnomAD v4:
2-27313016-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27313016A>G , CM000664.2:g.27313016A>G | GRCh38 |
| NC_000002.11:g.27535883A>G , CM000664.1:g.27535883A>G | GRCh37 |
| NC_000002.10:g.27389387A>G | NCBI36 |
| NG_008075.1:g.14549T>C | |
| NG_033055.1:g.248T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.164T>C MANE Select | ENSP00000369383.1:p.Val55Ala | |
| ENST00000233545.6:c.164T>C | ENSP00000233545.2:p.Val55Ala | |
| ENST00000357186.10:c.19-244T>C | ENSP00000349713.6:n.19-244T>C | |
| ENST00000380044.5:c.164T>C | ENSP00000369383.1:p.Val55Ala | |
| ENST00000402310.5:c.164T>C | ENSP00000383955.1:p.Val55Ala | |
| ENST00000402722.5:c.129T>C | ENSP00000386000.1:p.Gly43= | |
| ENST00000403262.6:c.164T>C | ENSP00000385671.1:p.Val55Ala | |
| ENST00000405076.5:c.164T>C | ENSP00000385175.1:p.Val55Ala | |
| ENST00000405983.5:c.209T>C | ENSP00000384586.1:p.Val70Ala | |
| ENST00000415514.5:c.228-244T>C | ENSP00000388043.1:n.228-244T>C | |
| ENST00000426513.6:c.129T>C | ENSP00000403824.2:p.Gly43= | |
| ENST00000428910.5:c.86T>C | ENSP00000405235.1:p.Val29Ala | |
| ENST00000430991.5:c.94T>C | ||
| ENST00000616446.1:n.141T>C | ||
| ENST00000616707.1:n.372T>C | ||
| ENST00000617583.4:n.190T>C | ||
| ENST00000621183.4:n.220T>C | ||
| ENST00000621470.4:n.180T>C | ||
| ENST00000622003.4:n.337T>C | ||
| NM_002437.4:c.164T>C | NP_002428.1:p.Val55Ala | |
| XM_005264326.2:c.164T>C | XP_005264383.1:p.Val55Ala | |
| XM_005264327.2:c.5T>C | XP_005264384.1:p.Val2Ala | |
| XM_006712021.2:c.116T>C | XP_006712084.1:p.Val39Ala | |
| XM_005264326.4:c.164T>C | XP_005264383.1:p.Val55Ala | |
| XM_006712021.3:c.116T>C | XP_006712084.1:p.Val39Ala | |
| XM_017004150.1:c.146T>C | XP_016859639.1:p.Val49Ala | |
| XM_017004151.1:c.116T>C | XP_016859640.1:p.Val39Ala | |
| XM_017004152.1:c.5T>C | XP_016859641.1:p.Val2Ala | |
| XM_024452913.1:c.116T>C | XP_024308681.1:p.Val39Ala | |
| NM_002437.5:c.164T>C MANE Select | NP_002428.1:p.Val55Ala |