Linked Data
ClinVar Variation Id:
367313
dbSNP Id:
rs200248159
ExAC:
9:77407633 A / G
gnomAD v2:
9-77407633-A-G
gnomAD v3:
9-74792717-A-G
gnomAD v4:
9-74792717-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74792717A>G , CM000671.2:g.74792717A>G | GRCh38 |
| NC_000009.11:g.77407633A>G , CM000671.1:g.77407633A>G | GRCh37 |
| NC_000009.10:g.76597453A>G | NCBI36 |
| NG_017036.1:g.100378T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360774.6:c.2445T>C MANE Select | ENSP00000354006.1:p.His815= | |
| ENST00000360774.5:c.2445T>C | ENSP00000354006.1:p.His815= | |
| ENST00000361255.7:c.2430T>C | ENSP00000354962.3:p.His810= | |
| ENST00000449912.6:c.2430T>C | ENSP00000396672.2:p.His810= | |
| NM_001177310.1:c.2430T>C | NP_001170781.1:p.His810= | |
| NM_001177311.1:c.2430T>C | NP_001170782.1:p.His810= | |
| NM_017662.4:c.2445T>C | NP_060132.3:p.His815= | |
| XM_011518244.1:c.2445T>C | XP_011516546.1:p.His815= | |
| XM_011518245.1:c.2352T>C | XP_011516547.1:p.His784= | |
| XM_011518246.1:c.2445T>C | XP_011516548.1:p.His815= | |
| XM_011518247.1:c.2445T>C | XP_011516549.1:p.His815= | |
| XM_011518248.1:c.2304T>C | XP_011516550.1:p.His768= | |
| XM_011518249.1:c.2211T>C | XP_011516551.1:p.His737= | |
| XM_011518250.1:c.2391+4024T>C | XP_011516552.1:n.2391+4024T>C | |
| XM_011518251.1:c.1716T>C | XP_011516553.1:p.His572= | |
| XM_011518252.1:c.2445T>C | XP_011516554.1:p.His815= | |
| XM_011518253.1:c.378T>C | XP_011516555.1:p.His126= | |
| XM_011518254.1:c.2445T>C | XP_011516556.1:p.His815= | |
| XM_011518255.1:c.2445T>C | XP_011516557.1:p.His815= | |
| XR_929716.1:n.2683T>C | ||
| XR_929717.1:n.2683T>C | ||
| XR_929718.1:n.2683T>C | ||
| XM_011518251.2:c.1716T>C | XP_011516553.1:p.His572= | |
| XM_011518252.2:c.2445T>C | XP_011516554.1:p.His815= | |
| XM_011518255.2:c.2445T>C | XP_011516557.1:p.His815= | |
| XM_017014287.1:c.2211T>C | XP_016869776.1:p.His737= | |
| XM_017014288.1:c.2157+4024T>C | XP_016869777.1:n.2157+4024T>C | |
| XM_017014289.1:c.2445T>C | XP_016869778.1:p.His815= | |
| XR_001746185.1:n.2683T>C | ||
| XR_929717.2:n.2683T>C | ||
| NM_017662.5:c.2445T>C MANE Select | NP_060132.3:p.His815= | |
| NM_001177310.2:c.2430T>C | NP_001170781.1:p.His810= | |
| NM_001177311.2:c.2430T>C | NP_001170782.1:p.His810= |