Linked Data
ClinVar Variation Id:
809143
ClinVar RCV Id:
RCV000997648
dbSNP Id:
rs1581574355
gnomAD v4:
2-203871465-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203871465C>G , CM000664.2:g.203871465C>G | GRCh38 |
| NC_000002.11:g.204736188C>G , CM000664.1:g.204736188C>G | GRCh37 |
| NC_000002.10:g.204444433C>G | NCBI36 |
| NG_011502.1:g.8680C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.507+38C>G | ENSP00000512353.1:n.507+38C>G | |
| ENST00000696479.1:c.617C>G | ENSP00000512655.1:p.Thr206Arg | |
| ENST00000427473.3:n.491+532C>G | ||
| ENST00000648405.2:c.545C>G MANE Select | ENSP00000497102.1:p.Thr182Arg | |
| ENST00000650075.1:n.569C>G | ||
| ENST00000295854.10:c.457+532C>G | ENSP00000295854.6:n.457+532C>G | |
| ENST00000302823.7:c.545C>G | ENSP00000303939.3:p.Thr182Arg | |
| ENST00000427473.2:c.346+532C>G | ENSP00000409707.2:n.346+532C>G | |
| ENST00000472206.1:c.172+817C>G | ENSP00000417779.1:n.172+817C>G | |
| ENST00000487393.1:n.110-1243C>G | ||
| NM_001037631.2:c.457+532C>G | NP_001032720.1:n.457+532C>G | |
| NM_005214.4:c.545C>G | NP_005205.2:p.Thr182Arg | |
| XR_241294.1:n.685C>G | ||
| NM_001037631.3:c.457+532C>G | NP_001032720.1:n.457+532C>G | |
| NM_005214.5:c.545C>G MANE Select | NP_005205.2:p.Thr182Arg |