Linked Data
ClinVar Variation Id:
555942
ClinVar RCV Id:
RCV000671863
dbSNP Id:
rs766966222
ExAC:
1:2340258 T / C
gnomAD v2:
1-2340258-T-C
gnomAD v4:
1-2408819-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2408819T>C , CM000663.2:g.2408819T>C | GRCh38 |
| NC_000001.10:g.2340258T>C , CM000663.1:g.2340258T>C | GRCh37 |
| NC_000001.9:g.2330118T>C | NCBI36 |
| NG_008342.1:g.8753A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.233A>G | ENSP00000288774.3:p.Gln78Arg | |
| ENST00000447513.7:c.233A>G MANE Select | ENSP00000407922.2:p.Gln78Arg | |
| ENST00000650293.1:c.187A>G | ||
| ENST00000288774.7:c.233A>G | ENSP00000288774.3:p.Gln78Arg | |
| ENST00000447513.6:c.233A>G | ENSP00000407922.2:p.Gln78Arg | |
| ENST00000502666.1:c.438A>G | ENSP00000461951.1:n.438A>G | |
| ENST00000507596.5:c.233A>G | ENSP00000424291.1:p.Gln78Arg | |
| ENST00000508384.5:c.-200A>G | ENSP00000464289.1:n.-200A>G | |
| ENST00000510434.1:c.233A>G | ENSP00000423051.1:p.Gln78Arg | |
| ENST00000514502.1:c.*250A>G | ENSP00000425924.1:n.*250A>G | |
| ENST00000515760.1:n.367A>G | ||
| NM_002617.3:c.233A>G | NP_002608.1:p.Gln78Arg | |
| NM_153818.1:c.233A>G | NP_722540.1:p.Gln78Arg | |
| XM_011541573.1:c.233A>G | XP_011539875.1:p.Gln78Arg | |
| XM_011541574.1:c.-200A>G | XP_011539876.1:n.-200A>G | |
| XM_011541575.1:c.-200A>G | XP_011539877.1:n.-200A>G | |
| XM_011541576.1:c.233A>G | XP_011539878.1:p.Gln78Arg | |
| XR_946666.1:n.353A>G | ||
| XM_011541576.2:c.233A>G | XP_011539878.1:p.Gln78Arg | |
| XR_946666.2:n.302A>G | ||
| NM_001374425.1:c.233A>G | NP_001361354.1:p.Gln78Arg | |
| NM_001374426.1:c.-200A>G | NP_001361355.1:n.-200A>G | |
| NM_001374427.1:c.-200A>G | NP_001361356.1:n.-200A>G | |
| NM_002617.4:c.233A>G MANE Select | NP_002608.1:p.Gln78Arg | |
| NM_153818.2:c.233A>G | NP_722540.1:p.Gln78Arg | |
| NR_164636.1:n.352A>G |