Linked Data
ClinVar Variation Id:
529191
dbSNP Id:
rs534923467
ExAC:
17:8135758 C / T
gnomAD v2:
17-8135758-C-T
gnomAD v3:
17-8232440-C-T
gnomAD v4:
17-8232440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8232440C>T , CM000679.2:g.8232440C>T | GRCh38 |
| NC_000017.10:g.8135758C>T , CM000679.1:g.8135758C>T | GRCh37 |
| NC_000017.9:g.8076483C>T | NCBI36 |
| NG_032148.1:g.20656G>A | |
| NG_032148.2:g.20656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.1981G>A | ENSP00000462607.2:p.Val661Ile | |
| ENST00000581729.2:c.1981G>A | ENSP00000462720.2:p.Val661Ile | |
| ENST00000581967.2:n.2433G>A | ||
| ENST00000583254.2:n.2687G>A | ||
| ENST00000699849.1:c.1084G>A | ENSP00000514647.1:p.Val362Ile | |
| ENST00000699850.1:n.1244G>A | ||
| ENST00000699851.1:n.2003G>A | ||
| ENST00000699852.1:c.*657G>A | ENSP00000514648.1:n.*657G>A | |
| ENST00000699853.1:c.1981G>A | ENSP00000514649.1:p.Val661Ile | |
| ENST00000699854.1:n.1774G>A | ||
| ENST00000699855.1:n.2433G>A | ||
| ENST00000699856.1:c.1981G>A | ENSP00000514650.1:p.Val661Ile | |
| ENST00000699857.1:n.1989G>A | ||
| ENST00000699858.1:c.*594G>A | ENSP00000514651.1:n.*594G>A | |
| ENST00000699859.1:c.1852G>A | ENSP00000514652.1:p.Val618Ile | |
| ENST00000699860.1:n.87G>A | ||
| ENST00000699861.1:n.2003G>A | ||
| ENST00000699862.1:n.2941G>A | ||
| ENST00000449476.7:c.1876G>A | ENSP00000396018.2:p.Val626Ile | |
| ENST00000581671.2:n.1970G>A | ||
| ENST00000643543.1:c.*688G>A | ENSP00000494323.1:n.*688G>A | |
| ENST00000651323.1:c.1981G>A MANE Select | ENSP00000498499.1:p.Val661Ile | |
| ENST00000315684.12:c.1981G>A | ENSP00000313759.8:p.Val661Ile | |
| ENST00000449476.6:c.1876G>A | ENSP00000396018.2:p.Val626Ile | |
| ENST00000578240.1:n.209G>A | ||
| NM_025099.5:c.1981G>A | NP_079375.3:p.Val661Ile | |
| NR_046431.1:n.1935G>A | ||
| XM_006721577.2:c.1852G>A | XP_006721640.1:p.Val618Ile | |
| XM_006721578.2:c.1981G>A | XP_006721641.1:p.Val661Ile | |
| XM_006721579.2:c.1981G>A | XP_006721642.1:p.Val661Ile | |
| XM_011524010.1:c.1876G>A | XP_011522312.1:p.Val626Ile | |
| XM_011524011.1:c.1084G>A | XP_011522313.1:p.Val362Ile | |
| XR_429823.2:n.2024G>A | ||
| XR_429824.2:n.2024G>A | ||
| XR_429825.1:n.2024G>A | ||
| NM_025099.6:c.1981G>A MANE Select | NP_079375.3:p.Val661Ile | |
| XM_006721577.3:c.1852G>A | XP_006721640.1:p.Val618Ile | |
| XM_006721578.3:c.1981G>A | XP_006721641.1:p.Val661Ile | |
| XM_011524010.2:c.1876G>A | XP_011522312.1:p.Val626Ile | |
| XM_011524011.2:c.1084G>A | XP_011522313.1:p.Val362Ile | |
| XR_001752639.1:n.1895G>A | ||
| XR_001752640.1:n.2024G>A | ||
| XR_001752641.1:n.2024G>A | ||
| XR_001752642.1:n.2024G>A | ||
| XR_001752643.1:n.2454G>A | ||
| XR_001752644.1:n.2310G>A | ||
| XR_002958073.1:n.2024G>A | ||
| XR_429823.3:n.2024G>A | ||
| XR_429824.3:n.2024G>A | ||
| NR_046431.2:n.1896G>A |