Linked Data
ClinVar Variation Id:
970779
ClinVar RCV Id:
RCV001246421
dbSNP Id:
rs376415487
ExAC:
1:206941988 C / T
gnomAD v2:
1-206941988-C-T
gnomAD v3:
1-206768643-C-T
gnomAD v4:
1-206768643-C-T
COSMIC:
COSM3482494
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206768643C>T , CM000663.2:g.206768643C>T | GRCh38 |
| NC_000001.10:g.206941988C>T , CM000663.1:g.206941988C>T | GRCh37 |
| NC_000001.9:g.205008611C>T | NCBI36 |
| NG_012088.1:g.8852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.1535G>A | ||
| ENST00000471071.2:c.275G>A | ENSP00000493073.2:p.Arg92Gln | |
| ENST00000640756.2:n.340G>A | ||
| ENST00000659065.2:c.413G>A | ENSP00000499588.1:p.Arg138Gln | |
| ENST00000659642.2:c.413G>A | ENSP00000499509.1:p.Arg138Gln | |
| ENST00000664374.2:c.413G>A | ENSP00000499664.1:p.Arg138Gln | |
| ENST00000640756.1:n.329G>A | ||
| ENST00000659065.1:c.413G>A | ENSP00000499588.1:p.Arg138Gln | |
| ENST00000659642.1:c.413G>A | ENSP00000499509.1:p.Arg138Gln | |
| ENST00000664374.1:c.413G>A | ENSP00000499664.1:p.Arg138Gln | |
| ENST00000423557.1:c.530G>A MANE Select | ENSP00000412237.1:p.Arg177Gln | |
| NM_000572.2:c.530G>A | NP_000563.1:p.Arg177Gln | |
| XM_011509506.1:c.530G>A | XP_011507808.1:p.Arg177Gln | |
| NM_000572.3:c.530G>A MANE Select | NP_000563.1:p.Arg177Gln | |
| NM_001382624.1:c.275G>A | NP_001369553.1:p.Arg92Gln | |
| NR_168466.1:n.827G>A | ||
| NR_168467.1:n.357G>A |