Linked Data
ClinVar Variation Id:
1355729
dbSNP Id:
rs755685700
ExAC:
17:7127353 A / G
gnomAD v2:
17-7127353-A-G
gnomAD v4:
17-7224034-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224034A>G , CM000679.2:g.7224034A>G | GRCh38 |
| NC_000017.10:g.7127353A>G , CM000679.1:g.7127353A>G | GRCh37 |
| NC_000017.9:g.7068077A>G | NCBI36 |
| NG_007975.1:g.9201A>G | |
| NG_008391.2:g.1017T>C | |
| NG_033038.1:g.15511T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1399A>G MANE Select | ENSP00000349297.5:p.Ile467Val | |
| ENST00000322910.9:c.*1354A>G | ENSP00000325395.5:n.*1354A>G | |
| ENST00000350303.9:c.1333A>G | ENSP00000344152.5:p.Ile445Val | |
| ENST00000356839.9:c.1399A>G | ENSP00000349297.5:p.Ile467Val | |
| ENST00000542255.6:c.257A>G | ||
| ENST00000543245.6:c.1468A>G | ENSP00000438689.2:p.Ile490Val | |
| ENST00000578711.1:n.530A>G | ||
| ENST00000579425.5:n.515A>G | ||
| ENST00000579546.1:c.236A>G | ||
| ENST00000579894.5:n.110A>G | ||
| ENST00000583074.5:n.118A>G | ||
| ENST00000583850.5:n.174A>G | ||
| ENST00000583858.5:c.428A>G | ||
| ENST00000585203.6:n.590A>G | ||
| NM_000018.3:c.1399A>G | NP_000009.1:p.Ile467Val | |
| NM_001033859.2:c.1333A>G | NP_001029031.1:p.Ile445Val | |
| NM_001270447.1:c.1468A>G | NP_001257376.1:p.Ile490Val | |
| NM_001270448.1:c.1171A>G | NP_001257377.1:p.Ile391Val | |
| XM_006721516.2:c.1399A>G | XP_006721579.2:p.Ile467Val | |
| XM_011523829.1:c.1399A>G | XP_011522131.1:p.Ile467Val | |
| XM_011523830.1:c.1399A>G | XP_011522132.1:p.Ile467Val | |
| XR_934021.1:n.1506A>G | ||
| XR_934022.1:n.1506A>G | ||
| XR_934023.1:n.1506A>G | ||
| XM_006721516.3:c.1399A>G | XP_006721579.2:p.Ile467Val | |
| XM_011523829.2:c.1399A>G | XP_011522131.1:p.Ile467Val | |
| XM_011523830.2:c.1399A>G | XP_011522132.1:p.Ile467Val | |
| XM_024450741.1:c.1399A>G | XP_024306509.1:p.Ile467Val | |
| XR_934021.2:n.1458A>G | ||
| XR_934022.2:n.1458A>G | ||
| XR_934023.2:n.1458A>G | ||
| NM_000018.4:c.1399A>G MANE Select | NP_000009.1:p.Ile467Val | |
| NM_001033859.3:c.1333A>G | NP_001029031.1:p.Ile445Val | |
| NM_001270447.2:c.1468A>G | NP_001257376.1:p.Ile490Val | |
| NM_001270448.2:c.1171A>G | NP_001257377.1:p.Ile391Val |