Linked Data
ClinVar Variation Id:
749660
ClinVar RCV Id:
RCV001273180
dbSNP Id:
rs370708710
ExAC:
1:24134658 A / C
gnomAD v2:
1-24134658-A-C
gnomAD v3:
1-23808168-A-C
gnomAD v4:
1-23808168-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23808168A>C , CM000663.2:g.23808168A>C | GRCh38 |
| NC_000001.10:g.24134658A>C , CM000663.1:g.24134658A>C | GRCh37 |
| NC_000001.9:g.24007245A>C | NCBI36 |
| NG_013061.1:g.22292T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.717T>G MANE Select | ENSP00000363614.3:p.Gly239= | |
| ENST00000235958.4:c.287T>G | ||
| ENST00000374487.6:c.*758T>G | ENSP00000363611.2:n.*758T>G | |
| ENST00000374490.7:c.717T>G | ENSP00000363614.3:p.Gly239= | |
| ENST00000436439.6:c.504T>G | ENSP00000389281.2:p.Gly168= | |
| ENST00000496907.1:n.352T>G | ||
| ENST00000509389.5:n.408T>G | ||
| NM_000191.2:c.717T>G | NP_000182.2:p.Gly239= | |
| NM_001166059.1:c.504T>G | NP_001159531.1:p.Gly168= | |
| NM_000191.3:c.717T>G MANE Select | NP_000182.2:p.Gly239= | |
| NM_001166059.2:c.504T>G | NP_001159531.1:p.Gly168= |