Linked Data
ClinVar Variation Id:
326067
dbSNP Id:
rs777357385
ExAC:
17:8132491 T / C
gnomAD v2:
17-8132491-T-C
gnomAD v3:
17-8229173-T-C
gnomAD v4:
17-8229173-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8229173T>C , CM000679.2:g.8229173T>C | GRCh38 |
| NC_000017.10:g.8132491T>C , CM000679.1:g.8132491T>C | GRCh37 |
| NC_000017.9:g.8073216T>C | NCBI36 |
| NG_032148.1:g.23923A>G | |
| NG_032148.2:g.23923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.3123+162A>G | ENSP00000462607.2:n.3123+162A>G | |
| ENST00000581729.2:c.3156+129A>G | ENSP00000462720.2:n.3156+129A>G | |
| ENST00000581967.2:n.3608+129A>G | ||
| ENST00000699849.1:c.2259+129A>G | ENSP00000514647.1:n.2259+129A>G | |
| ENST00000699850.1:n.2873A>G | ||
| ENST00000699851.1:n.4076A>G | ||
| ENST00000699852.1:c.*1734+129A>G | ENSP00000514648.1:n.*1734+129A>G | |
| ENST00000699853.1:c.3190A>G | ENSP00000514649.1:p.Thr1064Ala | |
| ENST00000699854.1:n.3403A>G | ||
| ENST00000699855.1:n.3967A>G | ||
| ENST00000699856.1:c.*170+129A>G | ENSP00000514650.1:n.*170+129A>G | |
| ENST00000699857.1:n.3520A>G | ||
| ENST00000699858.1:c.*2223A>G | ENSP00000514651.1:n.*2223A>G | |
| ENST00000699859.1:c.3027+129A>G | ENSP00000514652.1:n.3027+129A>G | |
| ENST00000699860.1:n.1522A>G | ||
| ENST00000699861.1:n.3307A>G | ||
| ENST00000449476.7:c.3051+129A>G | ENSP00000396018.2:n.3051+129A>G | |
| ENST00000581671.2:n.3179A>G | ||
| ENST00000643543.1:c.*1897A>G | ENSP00000494323.1:n.*1897A>G | |
| ENST00000651323.1:c.3190A>G MANE Select | ENSP00000498499.1:p.Thr1064Ala | |
| ENST00000315684.12:c.3190A>G | ENSP00000313759.8:p.Thr1064Ala | |
| ENST00000449476.6:c.3051+129A>G | ENSP00000396018.2:n.3051+129A>G | |
| ENST00000578441.5:n.642A>G | ||
| ENST00000578537.1:c.846A>G | ||
| ENST00000580299.1:c.294+162A>G | ENSP00000462607.1:n.294+162A>G | |
| ENST00000581729.1:c.104+129A>G | ||
| NM_025099.5:c.3190A>G | NP_079375.3:p.Thr1064Ala | |
| NR_046431.1:n.3110+129A>G | ||
| XM_006721577.2:c.3061A>G | XP_006721640.1:p.Thr1021Ala | |
| XM_006721578.2:c.3156+129A>G | XP_006721641.1:n.3156+129A>G | |
| XM_011524010.1:c.3085A>G | XP_011522312.1:p.Thr1029Ala | |
| XM_011524011.1:c.2293A>G | XP_011522313.1:p.Thr765Ala | |
| XR_429823.2:n.3233A>G | ||
| XR_429824.2:n.3199+129A>G | ||
| XR_429825.1:n.3039A>G | ||
| NM_025099.6:c.3190A>G MANE Select | NP_079375.3:p.Thr1064Ala | |
| XM_006721577.3:c.3061A>G | XP_006721640.1:p.Thr1021Ala | |
| XM_006721578.3:c.3156+129A>G | XP_006721641.1:n.3156+129A>G | |
| XM_011524010.2:c.3085A>G | XP_011522312.1:p.Thr1029Ala | |
| XM_011524011.2:c.2293A>G | XP_011522313.1:p.Thr765Ala | |
| XR_001752639.1:n.3070+129A>G | ||
| XR_001752640.1:n.3187A>G | ||
| XR_001752641.1:n.3153+129A>G | ||
| XR_001752642.1:n.3005+129A>G | ||
| XR_001752643.1:n.3629+129A>G | ||
| XR_002958073.1:n.3134A>G | ||
| XR_429823.3:n.3233A>G | ||
| XR_429824.3:n.3199+129A>G | ||
| NR_046431.2:n.3071+129A>G |