Linked Data
ClinVar Variation Id:
2920205
ClinVar RCV Id:
RCV003602037
dbSNP Id:
rs779623793
ExAC:
17:7127943 A / C
gnomAD v2:
17-7127943-A-C
gnomAD v3:
17-7224624-A-C
gnomAD v4:
17-7224624-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224624A>C , CM000679.2:g.7224624A>C | GRCh38 |
| NC_000017.10:g.7127943A>C , CM000679.1:g.7127943A>C | GRCh37 |
| NC_000017.9:g.7068667A>C | NCBI36 |
| NG_007975.1:g.9791A>C | |
| NG_008391.2:g.427T>G | |
| NG_033038.1:g.14921T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1679-18A>C MANE Select | ENSP00000349297.5:n.1679-18A>C | |
| ENST00000322910.9:c.*1634-18A>C | ENSP00000325395.5:n.*1634-18A>C | |
| ENST00000350303.9:c.1613-18A>C | ENSP00000344152.5:n.1613-18A>C | |
| ENST00000356839.9:c.1679-18A>C | ENSP00000349297.5:n.1679-18A>C | |
| ENST00000542255.6:c.536+72A>C | ||
| ENST00000543245.6:c.1748-18A>C | ENSP00000438689.2:n.1748-18A>C | |
| ENST00000578319.5:n.260-18A>C | ||
| ENST00000578711.1:n.1120A>C | ||
| ENST00000578809.5:n.251-18A>C | ||
| ENST00000579425.5:n.795-18A>C | ||
| ENST00000579546.1:c.414-18A>C | ||
| ENST00000582450.1:n.258A>C | ||
| ENST00000583074.5:n.299+72A>C | ||
| ENST00000583848.5:c.65-38A>C | ENSP00000466487.1:n.65-38A>C | |
| ENST00000583850.5:n.450-18A>C | ||
| ENST00000583858.5:c.610-18A>C | ||
| ENST00000585203.6:n.870-18A>C | ||
| NM_000018.3:c.1679-18A>C | NP_000009.1:n.1679-18A>C | |
| NM_001033859.2:c.1613-18A>C | NP_001029031.1:n.1613-18A>C | |
| NM_001270447.1:c.1748-18A>C | NP_001257376.1:n.1748-18A>C | |
| NM_001270448.1:c.1451-18A>C | NP_001257377.1:n.1451-18A>C | |
| XM_006721516.2:c.1678+72A>C | XP_006721579.2:n.1678+72A>C | |
| XM_011523829.1:c.1576+72A>C | XP_011522131.1:n.1576+72A>C | |
| XM_011523830.1:c.1577-18A>C | XP_011522132.1:n.1577-18A>C | |
| XR_934021.1:n.1782-18A>C | ||
| XR_934022.1:n.1688-18A>C | ||
| XR_934023.1:n.1687+72A>C | ||
| XM_006721516.3:c.1678+72A>C | XP_006721579.2:n.1678+72A>C | |
| XM_011523829.2:c.1576+72A>C | XP_011522131.1:n.1576+72A>C | |
| XM_011523830.2:c.1577-18A>C | XP_011522132.1:n.1577-18A>C | |
| XM_024450741.1:c.1667-18A>C | XP_024306509.1:n.1667-18A>C | |
| XR_934021.2:n.1734-18A>C | ||
| XR_934022.2:n.1640-18A>C | ||
| XR_934023.2:n.1639+72A>C | ||
| NM_000018.4:c.1679-18A>C MANE Select | NP_000009.1:n.1679-18A>C | |
| NM_001033859.3:c.1613-18A>C | NP_001029031.1:n.1613-18A>C | |
| NM_001270447.2:c.1748-18A>C | NP_001257376.1:n.1748-18A>C | |
| NM_001270448.2:c.1451-18A>C | NP_001257377.1:n.1451-18A>C |