Linked Data
ClinVar Variation Id:
567061
dbSNP Id:
rs750441118
ExAC:
17:7126956 A / G
gnomAD v4:
17-7223637-A-G
ERepo:
CA8338033/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223637A>G , CM000679.2:g.7223637A>G | GRCh38 |
| NC_000017.10:g.7126956A>G , CM000679.1:g.7126956A>G | GRCh37 |
| NC_000017.9:g.7067680A>G | NCBI36 |
| NG_007975.1:g.8804A>G | |
| NG_008391.2:g.1414T>C | |
| NG_033038.1:g.15908T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1183-7A>G MANE Select | ENSP00000349297.5:n.1183-7A>G | |
| ENST00000322910.9:c.*1138-7A>G | ENSP00000325395.5:n.*1138-7A>G | |
| ENST00000350303.9:c.1117-7A>G | ENSP00000344152.5:n.1117-7A>G | |
| ENST00000356839.9:c.1183-7A>G | ENSP00000349297.5:n.1183-7A>G | |
| ENST00000542255.6:c.41-7A>G | ||
| ENST00000543245.6:c.1252-7A>G | ENSP00000438689.2:n.1252-7A>G | |
| ENST00000578579.2:n.347A>G | ||
| ENST00000578711.1:n.133A>G | ||
| ENST00000578824.5:n.599-7A>G | ||
| ENST00000579425.5:n.207-7A>G | ||
| ENST00000579546.1:c.20-7A>G | ||
| ENST00000583858.5:c.212-7A>G | ||
| ENST00000585203.6:n.391-7A>G | ||
| NM_000018.3:c.1183-7A>G | NP_000009.1:n.1183-7A>G | |
| NM_001033859.2:c.1117-7A>G | NP_001029031.1:n.1117-7A>G | |
| NM_001270447.1:c.1252-7A>G | NP_001257376.1:n.1252-7A>G | |
| NM_001270448.1:c.955-7A>G | NP_001257377.1:n.955-7A>G | |
| XM_006721516.2:c.1183-7A>G | XP_006721579.2:n.1183-7A>G | |
| XM_011523829.1:c.1183-7A>G | XP_011522131.1:n.1183-7A>G | |
| XM_011523830.1:c.1183-7A>G | XP_011522132.1:n.1183-7A>G | |
| XR_934021.1:n.1290-7A>G | ||
| XR_934022.1:n.1290-7A>G | ||
| XR_934023.1:n.1290-7A>G | ||
| XM_006721516.3:c.1183-7A>G | XP_006721579.2:n.1183-7A>G | |
| XM_011523829.2:c.1183-7A>G | XP_011522131.1:n.1183-7A>G | |
| XM_011523830.2:c.1183-7A>G | XP_011522132.1:n.1183-7A>G | |
| XM_024450741.1:c.1183-7A>G | XP_024306509.1:n.1183-7A>G | |
| XR_934021.2:n.1242-7A>G | ||
| XR_934022.2:n.1242-7A>G | ||
| XR_934023.2:n.1242-7A>G | ||
| NM_000018.4:c.1183-7A>G MANE Select | NP_000009.1:n.1183-7A>G | |
| NM_001033859.3:c.1117-7A>G | NP_001029031.1:n.1117-7A>G | |
| NM_001270447.2:c.1252-7A>G | NP_001257376.1:n.1252-7A>G | |
| NM_001270448.2:c.955-7A>G | NP_001257377.1:n.955-7A>G |