Linked Data
ClinVar Variation Id:
2083947
ClinVar RCV Id:
RCV002994454
dbSNP Id:
rs751587723
gnomAD v2:
22-50297991-G-C
gnomAD v3:
22-49904343-G-C
gnomAD v4:
22-49904343-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49904343G>C , CM000684.2:g.49904343G>C | GRCh38 |
| NC_000022.10:g.50297991G>C , CM000684.1:g.50297991G>C | GRCh37 |
| NC_000022.9:g.48683995G>C | NCBI36 |
| NG_008927.1:g.19116C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.1156C>G MANE Select | ENSP00000333813.5:p.Gln386Glu | |
| ENST00000330817.10:c.1156C>G | ENSP00000333813.5:p.Gln386Glu | |
| ENST00000486602.1:c.362C>G | ||
| ENST00000492791.1:c.565C>G | ||
| NM_024105.3:c.1156C>G | NP_077010.1:p.Gln386Glu | |
| XM_011530369.1:c.1156C>G | XP_011528671.1:p.Gln386Glu | |
| XM_011530370.1:c.1156C>G | XP_011528672.1:p.Gln386Glu | |
| XM_011530371.1:c.1034C>G | XP_011528673.1:p.Pro345Arg | |
| XM_011530371.2:c.1034C>G | XP_011528673.1:p.Pro345Arg | |
| XM_017028936.1:c.1156C>G | XP_016884425.1:p.Gln386Glu | |
| XM_017028937.1:c.1156C>G | XP_016884426.1:p.Gln386Glu | |
| NM_024105.4:c.1156C>G MANE Select | NP_077010.1:p.Gln386Glu |