Linked Data
ClinVar Variation Id:
529197
dbSNP Id:
rs200225342
ExAC:
17:8131647 G / A
gnomAD v2:
17-8131647-G-A
gnomAD v3:
17-8228329-G-A
gnomAD v4:
17-8228329-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8228329G>A , CM000679.2:g.8228329G>A | GRCh38 |
| NC_000017.10:g.8131647G>A , CM000679.1:g.8131647G>A | GRCh37 |
| NC_000017.9:g.8072372G>A | NCBI36 |
| NG_032148.1:g.24767C>T | |
| NG_032148.2:g.24767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.3251-10C>T | ENSP00000462607.2:n.3251-10C>T | |
| ENST00000581729.2:c.3284-10C>T | ENSP00000462720.2:n.3284-10C>T | |
| ENST00000699849.1:c.2387-10C>T | ENSP00000514647.1:n.2387-10C>T | |
| ENST00000699850.1:n.3447-10C>T | ||
| ENST00000699851.1:n.4401-10C>T | ||
| ENST00000699852.1:c.*2028-10C>T | ENSP00000514648.1:n.*2028-10C>T | |
| ENST00000699853.1:c.*100-10C>T | ENSP00000514649.1:n.*100-10C>T | |
| ENST00000699854.1:n.4074-10C>T | ||
| ENST00000699855.1:n.4638-10C>T | ||
| ENST00000699856.1:c.*466-10C>T | ENSP00000514650.1:n.*466-10C>T | |
| ENST00000699857.1:n.4094-10C>T | ||
| ENST00000699858.1:c.*2799-10C>T | ENSP00000514651.1:n.*2799-10C>T | |
| ENST00000699859.1:c.*251-10C>T | ENSP00000514652.1:n.*251-10C>T | |
| ENST00000699860.1:n.2193-10C>T | ||
| ENST00000699861.1:n.3978-10C>T | ||
| ENST00000449476.7:c.*249-10C>T | ENSP00000396018.2:n.*249-10C>T | |
| ENST00000581671.2:n.3504-10C>T | ||
| ENST00000643543.1:c.*2222-10C>T | ENSP00000494323.1:n.*2222-10C>T | |
| ENST00000651323.1:c.3515-10C>T MANE Select | ENSP00000498499.1:n.3515-10C>T | |
| ENST00000315684.12:c.3515-10C>T | ENSP00000313759.8:n.3515-10C>T | |
| ENST00000449476.6:c.*249-10C>T | ENSP00000396018.2:n.*249-10C>T | |
| ENST00000581729.1:c.232-10C>T | ||
| NM_025099.5:c.3515-10C>T | NP_079375.3:n.3515-10C>T | |
| NR_046431.1:n.3404-10C>T | ||
| XM_006721577.2:c.3386-10C>T | XP_006721640.1:n.3386-10C>T | |
| XM_006721578.2:c.3284-10C>T | XP_006721641.1:n.3284-10C>T | |
| XM_011524010.1:c.3410-10C>T | XP_011522312.1:n.3410-10C>T | |
| XM_011524011.1:c.2618-10C>T | XP_011522313.1:n.2618-10C>T | |
| XR_429823.2:n.3392-10C>T | ||
| XR_429824.2:n.3493-10C>T | ||
| NM_025099.6:c.3515-10C>T MANE Select | NP_079375.3:n.3515-10C>T | |
| XM_006721577.3:c.3386-10C>T | XP_006721640.1:n.3386-10C>T | |
| XM_006721578.3:c.3284-10C>T | XP_006721641.1:n.3284-10C>T | |
| XM_011524010.2:c.3410-10C>T | XP_011522312.1:n.3410-10C>T | |
| XM_011524011.2:c.2618-10C>T | XP_011522313.1:n.2618-10C>T | |
| XR_001752639.1:n.3366-10C>T | ||
| XR_001752640.1:n.3514-10C>T | ||
| XR_001752641.1:n.3449-10C>T | ||
| XR_001752642.1:n.3299-10C>T | ||
| XR_002958073.1:n.3805-10C>T | ||
| XR_429823.3:n.3392-10C>T | ||
| XR_429824.3:n.3493-10C>T | ||
| NR_046431.2:n.3365-10C>T |