Linked Data
ClinVar Variation Id:
1946932
ClinVar RCV Id:
RCV002654086
dbSNP Id:
rs771162245
ExAC:
17:7127199 A / G
gnomAD v2:
17-7127199-A-G
gnomAD v3:
17-7223880-A-G
gnomAD v4:
17-7223880-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223880A>G , CM000679.2:g.7223880A>G | GRCh38 |
| NC_000017.10:g.7127199A>G , CM000679.1:g.7127199A>G | GRCh37 |
| NC_000017.9:g.7067923A>G | NCBI36 |
| NG_007975.1:g.9047A>G | |
| NG_008391.2:g.1171T>C | |
| NG_033038.1:g.15665T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1332+5A>G MANE Select | ENSP00000349297.5:n.1332+5A>G | |
| ENST00000322910.9:c.*1287+5A>G | ENSP00000325395.5:n.*1287+5A>G | |
| ENST00000350303.9:c.1266+5A>G | ENSP00000344152.5:n.1266+5A>G | |
| ENST00000356839.9:c.1332+5A>G | ENSP00000349297.5:n.1332+5A>G | |
| ENST00000542255.6:c.190+5A>G | ||
| ENST00000543245.6:c.1401+5A>G | ENSP00000438689.2:n.1401+5A>G | |
| ENST00000578711.1:n.376A>G | ||
| ENST00000579425.5:n.361A>G | ||
| ENST00000579546.1:c.169+5A>G | ||
| ENST00000583074.5:n.51+5A>G | ||
| ENST00000583850.5:n.107+5A>G | ||
| ENST00000583858.5:c.361+5A>G | ||
| ENST00000585203.6:n.523+22A>G | ||
| NM_000018.3:c.1332+5A>G | NP_000009.1:n.1332+5A>G | |
| NM_001033859.2:c.1266+5A>G | NP_001029031.1:n.1266+5A>G | |
| NM_001270447.1:c.1401+5A>G | NP_001257376.1:n.1401+5A>G | |
| NM_001270448.1:c.1104+5A>G | NP_001257377.1:n.1104+5A>G | |
| XM_006721516.2:c.1332+5A>G | XP_006721579.2:n.1332+5A>G | |
| XM_011523829.1:c.1332+5A>G | XP_011522131.1:n.1332+5A>G | |
| XM_011523830.1:c.1332+5A>G | XP_011522132.1:n.1332+5A>G | |
| XR_934021.1:n.1439+5A>G | ||
| XR_934022.1:n.1439+5A>G | ||
| XR_934023.1:n.1439+5A>G | ||
| XM_006721516.3:c.1332+5A>G | XP_006721579.2:n.1332+5A>G | |
| XM_011523829.2:c.1332+5A>G | XP_011522131.1:n.1332+5A>G | |
| XM_011523830.2:c.1332+5A>G | XP_011522132.1:n.1332+5A>G | |
| XM_024450741.1:c.1332+5A>G | XP_024306509.1:n.1332+5A>G | |
| XR_934021.2:n.1391+5A>G | ||
| XR_934022.2:n.1391+5A>G | ||
| XR_934023.2:n.1391+5A>G | ||
| NM_000018.4:c.1332+5A>G MANE Select | NP_000009.1:n.1332+5A>G | |
| NM_001033859.3:c.1266+5A>G | NP_001029031.1:n.1266+5A>G | |
| NM_001270447.2:c.1401+5A>G | NP_001257376.1:n.1401+5A>G | |
| NM_001270448.2:c.1104+5A>G | NP_001257377.1:n.1104+5A>G |