Linked Data
ClinVar Variation Id:
459598
ClinVar RCV Id:
RCV000545261
dbSNP Id:
rs189539795
ExAC:
17:8134794 G / A
gnomAD v2:
17-8134794-G-A
gnomAD v3:
17-8231476-G-A
gnomAD v4:
17-8231476-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8231476G>A , CM000679.2:g.8231476G>A | GRCh38 |
| NC_000017.10:g.8134794G>A , CM000679.1:g.8134794G>A | GRCh37 |
| NC_000017.9:g.8075519G>A | NCBI36 |
| NG_032148.1:g.21620C>T | |
| NG_032148.2:g.21620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.2476-7C>T | ENSP00000462607.2:n.2476-7C>T | |
| ENST00000581729.2:c.2476-7C>T | ENSP00000462720.2:n.2476-7C>T | |
| ENST00000581967.2:n.2928-7C>T | ||
| ENST00000583254.2:n.3518C>T | ||
| ENST00000699849.1:c.1579-7C>T | ENSP00000514647.1:n.1579-7C>T | |
| ENST00000699850.1:n.1739-7C>T | ||
| ENST00000699851.1:n.2498-7C>T | ||
| ENST00000699852.1:c.*1152-7C>T | ENSP00000514648.1:n.*1152-7C>T | |
| ENST00000699853.1:c.2476-7C>T | ENSP00000514649.1:n.2476-7C>T | |
| ENST00000699854.1:n.2269-7C>T | ||
| ENST00000699855.1:n.2928-7C>T | ||
| ENST00000699856.1:c.2476-7C>T | ENSP00000514650.1:n.2476-7C>T | |
| ENST00000699857.1:n.2484-7C>T | ||
| ENST00000699858.1:c.*1089-7C>T | ENSP00000514651.1:n.*1089-7C>T | |
| ENST00000699859.1:c.2347-7C>T | ENSP00000514652.1:n.2347-7C>T | |
| ENST00000699860.1:n.581+250C>T | ||
| ENST00000699861.1:n.2498-7C>T | ||
| ENST00000699862.1:n.3436-7C>T | ||
| ENST00000449476.7:c.2371-7C>T | ENSP00000396018.2:n.2371-7C>T | |
| ENST00000581671.2:n.2465-7C>T | ||
| ENST00000643543.1:c.*1183-7C>T | ENSP00000494323.1:n.*1183-7C>T | |
| ENST00000651323.1:c.2476-7C>T MANE Select | ENSP00000498499.1:n.2476-7C>T | |
| ENST00000315684.12:c.2476-7C>T | ENSP00000313759.8:n.2476-7C>T | |
| ENST00000449476.6:c.2371-7C>T | ENSP00000396018.2:n.2371-7C>T | |
| ENST00000578240.1:n.704-7C>T | ||
| ENST00000578537.1:c.371+250C>T | ||
| NM_025099.5:c.2476-7C>T | NP_079375.3:n.2476-7C>T | |
| NR_046431.1:n.2430-7C>T | ||
| XM_006721577.2:c.2347-7C>T | XP_006721640.1:n.2347-7C>T | |
| XM_006721578.2:c.2476-7C>T | XP_006721641.1:n.2476-7C>T | |
| XM_006721579.2:c.2476-7C>T | XP_006721642.1:n.2476-7C>T | |
| XM_011524010.1:c.2371-7C>T | XP_011522312.1:n.2371-7C>T | |
| XM_011524011.1:c.1579-7C>T | XP_011522313.1:n.1579-7C>T | |
| XR_429823.2:n.2519-7C>T | ||
| XR_429824.2:n.2519-7C>T | ||
| XR_429825.1:n.2518+250C>T | ||
| NM_025099.6:c.2476-7C>T MANE Select | NP_079375.3:n.2476-7C>T | |
| XM_006721577.3:c.2347-7C>T | XP_006721640.1:n.2347-7C>T | |
| XM_006721578.3:c.2476-7C>T | XP_006721641.1:n.2476-7C>T | |
| XM_011524010.2:c.2371-7C>T | XP_011522312.1:n.2371-7C>T | |
| XM_011524011.2:c.1579-7C>T | XP_011522313.1:n.1579-7C>T | |
| XR_001752639.1:n.2390-7C>T | ||
| XR_001752640.1:n.2519-7C>T | ||
| XR_001752641.1:n.2519-7C>T | ||
| XR_001752642.1:n.2518+250C>T | ||
| XR_001752643.1:n.2949-7C>T | ||
| XR_002958073.1:n.2518+250C>T | ||
| XR_429823.3:n.2519-7C>T | ||
| XR_429824.3:n.2519-7C>T | ||
| NR_046431.2:n.2391-7C>T |