Linked Data
ClinVar Variation Id:
1710575
ClinVar RCV Id:
RCV002291862
dbSNP Id:
rs1221183673
gnomAD v2:
1-245027384-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864082G>C , CM000663.2:g.244864082G>C | GRCh38 |
| NC_000001.10:g.245027384G>C , CM000663.1:g.245027384G>C | GRCh37 |
| NC_000001.9:g.243094007G>C | NCBI36 |
| NG_042184.1:g.5444C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.226C>G | ENSP00000283179.10:p.Gln76Glu | |
| ENST00000444376.7:c.226C>G | ENSP00000393151.2:p.Gln76Glu | |
| ENST00000476241.2:n.411C>G | ||
| ENST00000638475.1:c.10C>G | ENSP00000491305.1:p.Gln4Glu | |
| ENST00000638952.1:n.457C>G | ||
| ENST00000640218.2:c.226C>G MANE Select | ENSP00000491215.1:p.Gln76Glu | |
| ENST00000640306.1:c.226C>G | ENSP00000491685.1:p.Gln76Glu | |
| ENST00000649899.1:n.450C>G | ||
| ENST00000283179.13:c.226C>G | ENSP00000283179.9:p.Gln76Glu | |
| ENST00000444376.6:c.226C>G | ENSP00000393151.2:p.Gln76Glu | |
| ENST00000476241.1:n.410C>G | ||
| NM_004501.3:c.226C>G | NP_004492.2:p.Gln76Glu | |
| NM_031844.2:c.226C>G | NP_114032.2:p.Gln76Glu | |
| NM_031844.3:c.226C>G MANE Select | NP_114032.2:p.Gln76Glu |