Linked Data
ClinVar Variation Id:
1019656
ClinVar RCV Id:
RCV001319119
dbSNP Id:
rs547897675
ExAC:
17:8135465 G / A
gnomAD v2:
17-8135465-G-A
gnomAD v3:
17-8232147-G-A
gnomAD v4:
17-8232147-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8232147G>A , CM000679.2:g.8232147G>A | GRCh38 |
| NC_000017.10:g.8135465G>A , CM000679.1:g.8135465G>A | GRCh37 |
| NC_000017.9:g.8076190G>A | NCBI36 |
| NG_032148.1:g.20949C>T | |
| NG_032148.2:g.20949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.2141C>T | ENSP00000462607.2:p.Thr714Ile | |
| ENST00000581729.2:c.2141C>T | ENSP00000462720.2:p.Thr714Ile | |
| ENST00000581967.2:n.2593C>T | ||
| ENST00000583254.2:n.2847C>T | ||
| ENST00000699849.1:c.1244C>T | ENSP00000514647.1:p.Thr415Ile | |
| ENST00000699850.1:n.1404C>T | ||
| ENST00000699851.1:n.2163C>T | ||
| ENST00000699852.1:c.*817C>T | ENSP00000514648.1:n.*817C>T | |
| ENST00000699853.1:c.2141C>T | ENSP00000514649.1:p.Thr714Ile | |
| ENST00000699854.1:n.1934C>T | ||
| ENST00000699855.1:n.2593C>T | ||
| ENST00000699856.1:c.2141C>T | ENSP00000514650.1:p.Thr714Ile | |
| ENST00000699857.1:n.2149C>T | ||
| ENST00000699858.1:c.*754C>T | ENSP00000514651.1:n.*754C>T | |
| ENST00000699859.1:c.2012C>T | ENSP00000514652.1:p.Thr671Ile | |
| ENST00000699860.1:n.247C>T | ||
| ENST00000699861.1:n.2163C>T | ||
| ENST00000699862.1:n.3101C>T | ||
| ENST00000449476.7:c.2036C>T | ENSP00000396018.2:p.Thr679Ile | |
| ENST00000581671.2:n.2130C>T | ||
| ENST00000643543.1:c.*848C>T | ENSP00000494323.1:n.*848C>T | |
| ENST00000651323.1:c.2141C>T MANE Select | ENSP00000498499.1:p.Thr714Ile | |
| ENST00000315684.12:c.2141C>T | ENSP00000313759.8:p.Thr714Ile | |
| ENST00000449476.6:c.2036C>T | ENSP00000396018.2:p.Thr679Ile | |
| ENST00000578240.1:n.369C>T | ||
| ENST00000578537.1:c.37C>T | ||
| NM_025099.5:c.2141C>T | NP_079375.3:p.Thr714Ile | |
| NR_046431.1:n.2095C>T | ||
| XM_006721577.2:c.2012C>T | XP_006721640.1:p.Thr671Ile | |
| XM_006721578.2:c.2141C>T | XP_006721641.1:p.Thr714Ile | |
| XM_006721579.2:c.2141C>T | XP_006721642.1:p.Thr714Ile | |
| XM_011524010.1:c.2036C>T | XP_011522312.1:p.Thr679Ile | |
| XM_011524011.1:c.1244C>T | XP_011522313.1:p.Thr415Ile | |
| XR_429823.2:n.2184C>T | ||
| XR_429824.2:n.2184C>T | ||
| XR_429825.1:n.2184C>T | ||
| NM_025099.6:c.2141C>T MANE Select | NP_079375.3:p.Thr714Ile | |
| XM_006721577.3:c.2012C>T | XP_006721640.1:p.Thr671Ile | |
| XM_006721578.3:c.2141C>T | XP_006721641.1:p.Thr714Ile | |
| XM_011524010.2:c.2036C>T | XP_011522312.1:p.Thr679Ile | |
| XM_011524011.2:c.1244C>T | XP_011522313.1:p.Thr415Ile | |
| XR_001752639.1:n.2055C>T | ||
| XR_001752640.1:n.2184C>T | ||
| XR_001752641.1:n.2184C>T | ||
| XR_001752642.1:n.2184C>T | ||
| XR_001752643.1:n.2614C>T | ||
| XR_002958073.1:n.2184C>T | ||
| XR_429823.3:n.2184C>T | ||
| XR_429824.3:n.2184C>T | ||
| NR_046431.2:n.2056C>T |