Linked Data
ClinVar Variation Id:
2382499
ClinVar RCV Id:
RCV004217162
dbSNP Id:
rs768134516
ExAC:
19:51361312 C / G
gnomAD v2:
19-51361312-C-G
gnomAD v3:
19-50858056-C-G
gnomAD v4:
19-50858056-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50858056C>G , CM000681.2:g.50858056C>G | GRCh38 |
| NC_000019.9:g.51361312C>G , CM000681.1:g.51361312C>G | GRCh37 |
| NC_000019.8:g.56053124C>G | NCBI36 |
| NG_011653.1:g.8142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.234C>G MANE Select | ENSP00000314151.1:p.His78Gln | |
| ENST00000326003.6:c.234C>G | ENSP00000314151.1:p.His78Gln | |
| ENST00000360617.7:c.234C>G | ENSP00000353829.2:p.His78Gln | |
| ENST00000422986.6:c.234C>G | ENSP00000393628.2:p.His78Gln | |
| ENST00000593997.5:c.234C>G | ENSP00000472907.1:p.His78Gln | |
| ENST00000595392.5:c.234C>G | ENSP00000468912.1:p.His78Gln | |
| ENST00000595952.5:c.207-102C>G | ENSP00000471155.1:n.207-102C>G | |
| ENST00000596185.5:c.*342C>G | ENSP00000471648.1:n.*342C>G | |
| ENST00000596333.1:n.269C>G | ||
| ENST00000597286.5:c.123C>G | ENSP00000470523.1:p.His41Gln | |
| ENST00000597483.5:c.207-102C>G | ENSP00000472411.1:n.207-102C>G | |
| ENST00000598145.1:c.218C>G | ||
| ENST00000601349.5:n.1513C>G | ||
| ENST00000601503.5:c.177C>G | ENSP00000472213.1:p.His59Gln | |
| ENST00000601812.1:n.666C>G | ||
| ENST00000617027.4:c.234C>G | ENSP00000483513.1:p.His78Gln | |
| NM_001030047.1:c.234C>G | NP_001025218.1:p.His78Gln | |
| NM_001030048.1:c.207-102C>G | NP_001025219.1:n.207-102C>G | |
| NM_001648.2:c.234C>G MANE Select | NP_001639.1:p.His78Gln | |
| XM_011526923.1:c.234C>G | XP_011525225.1:p.His78Gln | |
| XM_011526924.1:c.234C>G | XP_011525226.1:p.His78Gln | |
| XR_935817.1:n.269C>G |