Linked Data
ClinVar Variation Id:
1685226
ClinVar RCV Id:
RCV002248953
dbSNP Id:
rs63751196
ExAC:
11:5275897 A / G
gnomAD v2:
11-5275897-A-G
gnomAD v3:
11-5254667-A-G
gnomAD v4:
11-5254667-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254667A>G , CM000673.2:g.5254667A>G | GRCh38 |
| NC_000011.9:g.5275897A>G , CM000673.1:g.5275897A>G | GRCh37 |
| NC_000011.8:g.5232473A>G | NCBI36 |
| NG_000007.3:g.42949T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.62T>C MANE Select | ENSP00000338082.4:p.Val21Ala | |
| ENST00000380252.6:c.-73-153T>C | ENSP00000369602.2:n.-73-153T>C | |
| ENST00000380259.7:c.1608T>C | ENSP00000369609.3:n.1608T>C | |
| ENST00000642908.1:c.62T>C | ENSP00000495346.1:p.Val21Ala | |
| ENST00000647543.1:c.62T>C | ENSP00000496470.1:p.Val21Ala | |
| ENST00000336906.4:c.62T>C | ENSP00000338082.4:p.Val21Ala | |
| ENST00000380252.5:c.63-153T>C | ENSP00000369602.1:n.63-153T>C | |
| ENST00000380259.6:c.62T>C | ENSP00000369609.2:p.Val21Ala | |
| ENST00000444587.1:c.54+8T>C | ENSP00000488218.1:n.54+8T>C | |
| ENST00000620888.4:c.62T>C | ENSP00000479637.1:p.Val21Ala | |
| ENST00000624109.1:c.296A>G | ENSP00000485458.1:p.His99Arg | |
| NM_000184.2:c.62T>C | NP_000175.1:p.Val21Ala | |
| NM_000184.3:c.62T>C MANE Select | NP_000175.1:p.Val21Ala |