Linked Data
ClinVar Variation Id:
21019
dbSNP Id:
rs113994171
ExAC:
17:7127955 G / A
gnomAD v2:
17-7127955-G-A
gnomAD v3:
17-7224636-G-A
gnomAD v4:
17-7224636-G-A
ERepo:
CA312281/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224636G>A , CM000679.2:g.7224636G>A | GRCh38 |
| NC_000017.10:g.7127955G>A , CM000679.1:g.7127955G>A | GRCh37 |
| NC_000017.9:g.7068679G>A | NCBI36 |
| NG_007975.1:g.9803G>A | |
| NG_008391.2:g.415C>T | |
| NG_033038.1:g.14909C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1679-6G>A MANE Select | ENSP00000349297.5:n.1679-6G>A | |
| ENST00000322910.9:c.*1634-6G>A | ENSP00000325395.5:n.*1634-6G>A | |
| ENST00000350303.9:c.1613-6G>A | ENSP00000344152.5:n.1613-6G>A | |
| ENST00000356839.9:c.1679-6G>A | ENSP00000349297.5:n.1679-6G>A | |
| ENST00000542255.6:c.537-79G>A | ||
| ENST00000543245.6:c.1748-6G>A | ENSP00000438689.2:n.1748-6G>A | |
| ENST00000578033.1:n.4G>A | ||
| ENST00000578319.5:n.260-6G>A | ||
| ENST00000578711.1:n.1132G>A | ||
| ENST00000578809.5:n.251-6G>A | ||
| ENST00000579425.5:n.795-6G>A | ||
| ENST00000579546.1:c.414-6G>A | ||
| ENST00000582450.1:n.270G>A | ||
| ENST00000583074.5:n.300-79G>A | ||
| ENST00000583848.5:c.65-26G>A | ENSP00000466487.1:n.65-26G>A | |
| ENST00000583850.5:n.450-6G>A | ||
| ENST00000583858.5:c.610-6G>A | ||
| ENST00000585203.6:n.870-6G>A | ||
| NM_000018.3:c.1679-6G>A | NP_000009.1:n.1679-6G>A | |
| NM_001033859.2:c.1613-6G>A | NP_001029031.1:n.1613-6G>A | |
| NM_001270447.1:c.1748-6G>A | NP_001257376.1:n.1748-6G>A | |
| NM_001270448.1:c.1451-6G>A | NP_001257377.1:n.1451-6G>A | |
| XM_006721516.2:c.1679-79G>A | XP_006721579.2:n.1679-79G>A | |
| XM_011523829.1:c.1577-79G>A | XP_011522131.1:n.1577-79G>A | |
| XM_011523830.1:c.1577-6G>A | XP_011522132.1:n.1577-6G>A | |
| XR_934021.1:n.1782-6G>A | ||
| XR_934022.1:n.1688-6G>A | ||
| XR_934023.1:n.1688-79G>A | ||
| XM_006721516.3:c.1679-79G>A | XP_006721579.2:n.1679-79G>A | |
| XM_011523829.2:c.1577-79G>A | XP_011522131.1:n.1577-79G>A | |
| XM_011523830.2:c.1577-6G>A | XP_011522132.1:n.1577-6G>A | |
| XM_024450741.1:c.1667-6G>A | XP_024306509.1:n.1667-6G>A | |
| XR_934021.2:n.1734-6G>A | ||
| XR_934022.2:n.1640-6G>A | ||
| XR_934023.2:n.1640-79G>A | ||
| NM_000018.4:c.1679-6G>A MANE Select | NP_000009.1:n.1679-6G>A | |
| NM_001033859.3:c.1613-6G>A | NP_001029031.1:n.1613-6G>A | |
| NM_001270447.2:c.1748-6G>A | NP_001257376.1:n.1748-6G>A | |
| NM_001270448.2:c.1451-6G>A | NP_001257377.1:n.1451-6G>A |