Linked Data
ClinVar Variation Id:
2155760
ClinVar RCV Id:
RCV003083965
dbSNP Id:
rs778878911
ExAC:
17:7124235 T / A
gnomAD v2:
17-7124235-T-A
gnomAD v4:
17-7220916-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220916T>A , CM000679.2:g.7220916T>A | GRCh38 |
| NC_000017.10:g.7124235T>A , CM000679.1:g.7124235T>A | GRCh37 |
| NC_000017.9:g.7064959T>A | NCBI36 |
| NG_007975.1:g.6083T>A | |
| NG_008391.2:g.4135A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.343-8T>A MANE Select | ENSP00000349297.5:n.343-8T>A | |
| ENST00000322910.9:c.*298-8T>A | ENSP00000325395.5:n.*298-8T>A | |
| ENST00000350303.9:c.277-8T>A | ENSP00000344152.5:n.277-8T>A | |
| ENST00000356839.9:c.343-8T>A | ENSP00000349297.5:n.343-8T>A | |
| ENST00000543245.6:c.412-8T>A | ENSP00000438689.2:n.412-8T>A | |
| ENST00000577191.5:n.420-8T>A | ||
| ENST00000577433.5:n.551-8T>A | ||
| ENST00000577857.5:n.293+86T>A | ||
| ENST00000579286.5:n.524-8T>A | ||
| ENST00000579886.2:c.202-29T>A | ENSP00000463246.1:n.202-29T>A | |
| ENST00000580365.1:n.74-8T>A | ||
| ENST00000581378.5:c.42-8T>A | ||
| ENST00000581562.5:n.390-8T>A | ||
| ENST00000582056.5:n.518T>A | ||
| ENST00000582166.1:n.316T>A | ||
| ENST00000582356.5:n.627T>A | ||
| ENST00000583312.5:c.343-8T>A | ENSP00000467920.1:n.343-8T>A | |
| ENST00000584103.5:c.368T>A | ENSP00000465353.1:p.Leu123His | |
| NM_000018.3:c.343-8T>A | NP_000009.1:n.343-8T>A | |
| NM_001033859.2:c.277-8T>A | NP_001029031.1:n.277-8T>A | |
| NM_001270447.1:c.412-8T>A | NP_001257376.1:n.412-8T>A | |
| NM_001270448.1:c.115-8T>A | NP_001257377.1:n.115-8T>A | |
| XM_006721516.2:c.343-8T>A | XP_006721579.2:n.343-8T>A | |
| XM_011523829.1:c.343-8T>A | XP_011522131.1:n.343-8T>A | |
| XM_011523830.1:c.343-8T>A | XP_011522132.1:n.343-8T>A | |
| XR_934021.1:n.450-8T>A | ||
| XR_934022.1:n.450-8T>A | ||
| XR_934023.1:n.450-8T>A | ||
| XM_006721516.3:c.343-8T>A | XP_006721579.2:n.343-8T>A | |
| XM_011523829.2:c.343-8T>A | XP_011522131.1:n.343-8T>A | |
| XM_011523830.2:c.343-8T>A | XP_011522132.1:n.343-8T>A | |
| XM_024450741.1:c.343-8T>A | XP_024306509.1:n.343-8T>A | |
| XR_934021.2:n.402-8T>A | ||
| XR_934022.2:n.402-8T>A | ||
| XR_934023.2:n.402-8T>A | ||
| NM_000018.4:c.343-8T>A MANE Select | NP_000009.1:n.343-8T>A | |
| NM_001033859.3:c.277-8T>A | NP_001029031.1:n.277-8T>A | |
| NM_001270447.2:c.412-8T>A | NP_001257376.1:n.412-8T>A | |
| NM_001270448.2:c.115-8T>A | NP_001257377.1:n.115-8T>A |