Linked Data
ClinVar Variation Id:
434854
dbSNP Id:
rs562479062
ExAC:
17:8132214 T / C
gnomAD v2:
17-8132214-T-C
gnomAD v3:
17-8228896-T-C
gnomAD v4:
17-8228896-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8228896T>C , CM000679.2:g.8228896T>C | GRCh38 |
| NC_000017.10:g.8132214T>C , CM000679.1:g.8132214T>C | GRCh37 |
| NC_000017.9:g.8072939T>C | NCBI36 |
| NG_032148.1:g.24200A>G | |
| NG_032148.2:g.24200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.3124-267A>G | ENSP00000462607.2:n.3124-267A>G | |
| ENST00000581729.2:c.3157-267A>G | ENSP00000462720.2:n.3157-267A>G | |
| ENST00000581967.2:n.3609-4A>G | ||
| ENST00000699849.1:c.2260-267A>G | ENSP00000514647.1:n.2260-267A>G | |
| ENST00000699850.1:n.3150A>G | ||
| ENST00000699851.1:n.4108-4A>G | ||
| ENST00000699852.1:c.*1735-4A>G | ENSP00000514648.1:n.*1735-4A>G | |
| ENST00000699853.1:c.3221+246A>G | ENSP00000514649.1:n.3221+246A>G | |
| ENST00000699854.1:n.3680A>G | ||
| ENST00000699855.1:n.4244A>G | ||
| ENST00000699856.1:c.*171-4A>G | ENSP00000514650.1:n.*171-4A>G | |
| ENST00000699857.1:n.3797A>G | ||
| ENST00000699858.1:c.*2500A>G | ENSP00000514651.1:n.*2500A>G | |
| ENST00000699859.1:c.3028-4A>G | ENSP00000514652.1:n.3028-4A>G | |
| ENST00000699860.1:n.1799A>G | ||
| ENST00000699861.1:n.3584A>G | ||
| ENST00000449476.7:c.3052-4A>G | ENSP00000396018.2:n.3052-4A>G | |
| ENST00000581671.2:n.3211-4A>G | ||
| ENST00000643543.1:c.*1929-4A>G | ENSP00000494323.1:n.*1929-4A>G | |
| ENST00000651323.1:c.3222-4A>G MANE Select | ENSP00000498499.1:n.3222-4A>G | |
| ENST00000315684.12:c.3222-4A>G | ENSP00000313759.8:n.3222-4A>G | |
| ENST00000449476.6:c.3052-4A>G | ENSP00000396018.2:n.3052-4A>G | |
| ENST00000578441.5:n.674-4A>G | ||
| ENST00000578537.1:c.878-4A>G | ||
| ENST00000580299.1:c.295-267A>G | ENSP00000462607.1:n.295-267A>G | |
| ENST00000581729.1:c.105-267A>G | ||
| NM_025099.5:c.3222-4A>G | NP_079375.3:n.3222-4A>G | |
| NR_046431.1:n.3111-4A>G | ||
| XM_006721577.2:c.3093-4A>G | XP_006721640.1:n.3093-4A>G | |
| XM_006721578.2:c.3157-267A>G | XP_006721641.1:n.3157-267A>G | |
| XM_011524010.1:c.3117-4A>G | XP_011522312.1:n.3117-4A>G | |
| XM_011524011.1:c.2325-4A>G | XP_011522313.1:n.2325-4A>G | |
| XR_429823.2:n.3264+246A>G | ||
| XR_429824.2:n.3200-4A>G | ||
| XR_429825.1:n.3071-4A>G | ||
| NM_025099.6:c.3222-4A>G MANE Select | NP_079375.3:n.3222-4A>G | |
| XM_006721577.3:c.3093-4A>G | XP_006721640.1:n.3093-4A>G | |
| XM_006721578.3:c.3157-267A>G | XP_006721641.1:n.3157-267A>G | |
| XM_011524010.2:c.3117-4A>G | XP_011522312.1:n.3117-4A>G | |
| XM_011524011.2:c.2325-4A>G | XP_011522313.1:n.2325-4A>G | |
| XR_001752639.1:n.3071-4A>G | ||
| XR_001752640.1:n.3219-4A>G | ||
| XR_001752641.1:n.3154-4A>G | ||
| XR_001752642.1:n.3006-4A>G | ||
| XR_001752643.1:n.3630-4A>G | ||
| XR_002958073.1:n.3411A>G | ||
| XR_429823.3:n.3264+246A>G | ||
| XR_429824.3:n.3200-4A>G | ||
| NR_046431.2:n.3072-4A>G |