Linked Data
ClinVar Variation Id:
2301684
ClinVar RCV Id:
RCV004152285
dbSNP Id:
rs1847995859
gnomAD v4:
11-5254503-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254503A>G , CM000673.2:g.5254503A>G | GRCh38 |
| NC_000011.9:g.5275733A>G , CM000673.1:g.5275733A>G | GRCh37 |
| NC_000011.8:g.5232309A>G | NCBI36 |
| NG_000007.3:g.43113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.104T>C MANE Select | ENSP00000338082.4:p.Val35Ala | |
| ENST00000380252.6:c.-62T>C | ENSP00000369602.2:n.-62T>C | |
| ENST00000380259.7:c.1650T>C | ENSP00000369609.3:n.1650T>C | |
| ENST00000642908.1:c.104T>C | ENSP00000495346.1:p.Val35Ala | |
| ENST00000647543.1:c.104T>C | ENSP00000496470.1:p.Val35Ala | |
| ENST00000336906.4:c.104T>C | ENSP00000338082.4:p.Val35Ala | |
| ENST00000380252.5:c.74T>C | ENSP00000369602.1:p.Val25Ala | |
| ENST00000380259.6:c.104T>C | ENSP00000369609.2:p.Val35Ala | |
| ENST00000444587.1:c.66T>C | ENSP00000488218.1:p.Cys22= | |
| ENST00000620888.4:c.104T>C | ENSP00000479637.1:p.Val35Ala | |
| ENST00000624109.1:c.251A>G | ENSP00000485458.1:p.Asp84Gly | |
| NM_000184.2:c.104T>C | NP_000175.1:p.Val35Ala | |
| NM_000184.3:c.104T>C MANE Select | NP_000175.1:p.Val35Ala |