Linked Data
ClinVar Variation Id:
1982839
ClinVar RCV Id:
RCV002766897
dbSNP Id:
rs771681458
ExAC:
1:206943204 G / C
gnomAD v2:
1-206943204-G-C
gnomAD v4:
1-206769859-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206769859G>C , CM000663.2:g.206769859G>C | GRCh38 |
| NC_000001.10:g.206943204G>C , CM000663.1:g.206943204G>C | GRCh37 |
| NC_000001.9:g.205009827G>C | NCBI36 |
| NG_012088.1:g.7636C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.319C>G | ||
| ENST00000471071.2:c.159C>G | ENSP00000493073.2:p.Ala53= | |
| ENST00000640756.2:n.224C>G | ||
| ENST00000659065.2:c.297C>G | ENSP00000499588.1:p.Ala99= | |
| ENST00000659642.2:c.297C>G | ENSP00000499509.1:p.Ala99= | |
| ENST00000664374.2:c.297C>G | ENSP00000499664.1:p.Ala99= | |
| ENST00000640756.1:n.213C>G | ||
| ENST00000659065.1:c.297C>G | ENSP00000499588.1:p.Ala99= | |
| ENST00000659642.1:c.297C>G | ENSP00000499509.1:p.Ala99= | |
| ENST00000664374.1:c.297C>G | ENSP00000499664.1:p.Ala99= | |
| ENST00000367099.3:n.319C>G | ||
| ENST00000423557.1:c.414C>G MANE Select | ENSP00000412237.1:p.Ala138= | |
| ENST00000471071.1:n.329C>G | ||
| NM_000572.2:c.414C>G | NP_000563.1:p.Ala138= | |
| XM_011509506.1:c.414C>G | XP_011507808.1:p.Ala138= | |
| NM_000572.3:c.414C>G MANE Select | NP_000563.1:p.Ala138= | |
| NM_001382624.1:c.159C>G | NP_001369553.1:p.Ala53= | |
| NR_168466.1:n.711C>G | ||
| NR_168467.1:n.241C>G |