Linked Data
ClinVar Variation Id:
1598512
ClinVar RCV Id:
RCV002122586
dbSNP Id:
rs766504482
gnomAD v2:
17-7127057-C-G
gnomAD v3:
17-7223738-C-G
gnomAD v4:
17-7223738-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223738C>G , CM000679.2:g.7223738C>G | GRCh38 |
| NC_000017.10:g.7127057C>G , CM000679.1:g.7127057C>G | GRCh37 |
| NC_000017.9:g.7067781C>G | NCBI36 |
| NG_007975.1:g.8905C>G | |
| NG_008391.2:g.1313G>C | |
| NG_033038.1:g.15807G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1269+8C>G MANE Select | ENSP00000349297.5:n.1269+8C>G | |
| ENST00000322910.9:c.*1224+8C>G | ENSP00000325395.5:n.*1224+8C>G | |
| ENST00000350303.9:c.1203+8C>G | ENSP00000344152.5:n.1203+8C>G | |
| ENST00000356839.9:c.1269+8C>G | ENSP00000349297.5:n.1269+8C>G | |
| ENST00000542255.6:c.127+8C>G | ||
| ENST00000543245.6:c.1338+8C>G | ENSP00000438689.2:n.1338+8C>G | |
| ENST00000578579.2:n.440+8C>G | ||
| ENST00000578711.1:n.234C>G | ||
| ENST00000578824.5:n.685+8C>G | ||
| ENST00000579425.5:n.293+8C>G | ||
| ENST00000579546.1:c.106+8C>G | ||
| ENST00000583850.5:n.44+8C>G | ||
| ENST00000583858.5:c.298+8C>G | ||
| ENST00000585203.6:n.477+8C>G | ||
| NM_000018.3:c.1269+8C>G | NP_000009.1:n.1269+8C>G | |
| NM_001033859.2:c.1203+8C>G | NP_001029031.1:n.1203+8C>G | |
| NM_001270447.1:c.1338+8C>G | NP_001257376.1:n.1338+8C>G | |
| NM_001270448.1:c.1041+8C>G | NP_001257377.1:n.1041+8C>G | |
| XM_006721516.2:c.1269+8C>G | XP_006721579.2:n.1269+8C>G | |
| XM_011523829.1:c.1269+8C>G | XP_011522131.1:n.1269+8C>G | |
| XM_011523830.1:c.1269+8C>G | XP_011522132.1:n.1269+8C>G | |
| XR_934021.1:n.1376+8C>G | ||
| XR_934022.1:n.1376+8C>G | ||
| XR_934023.1:n.1376+8C>G | ||
| XM_006721516.3:c.1269+8C>G | XP_006721579.2:n.1269+8C>G | |
| XM_011523829.2:c.1269+8C>G | XP_011522131.1:n.1269+8C>G | |
| XM_011523830.2:c.1269+8C>G | XP_011522132.1:n.1269+8C>G | |
| XM_024450741.1:c.1269+8C>G | XP_024306509.1:n.1269+8C>G | |
| XR_934021.2:n.1328+8C>G | ||
| XR_934022.2:n.1328+8C>G | ||
| XR_934023.2:n.1328+8C>G | ||
| NM_000018.4:c.1269+8C>G MANE Select | NP_000009.1:n.1269+8C>G | |
| NM_001033859.3:c.1203+8C>G | NP_001029031.1:n.1203+8C>G | |
| NM_001270447.2:c.1338+8C>G | NP_001257376.1:n.1338+8C>G | |
| NM_001270448.2:c.1041+8C>G | NP_001257377.1:n.1041+8C>G |