Linked Data
ClinVar Variation Id:
1121220
ClinVar RCV Id:
RCV001451421
dbSNP Id:
rs760355468
ExAC:
17:7124955 T / C
gnomAD v2:
17-7124955-T-C
gnomAD v3:
17-7221636-T-C
gnomAD v4:
17-7221636-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221636T>C , CM000679.2:g.7221636T>C | GRCh38 |
| NC_000017.10:g.7124955T>C , CM000679.1:g.7124955T>C | GRCh37 |
| NC_000017.9:g.7065679T>C | NCBI36 |
| NG_007975.1:g.6803T>C | |
| NG_008391.2:g.3415A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.576T>C MANE Select | ENSP00000349297.5:p.Phe192= | |
| ENST00000322910.9:c.*531T>C | ENSP00000325395.5:n.*531T>C | |
| ENST00000350303.9:c.510T>C | ENSP00000344152.5:p.Phe170= | |
| ENST00000356839.9:c.576T>C | ENSP00000349297.5:p.Phe192= | |
| ENST00000543245.6:c.645T>C | ENSP00000438689.2:p.Phe215= | |
| ENST00000577191.5:n.653T>C | ||
| ENST00000577433.5:n.784T>C | ||
| ENST00000577857.5:n.392T>C | ||
| ENST00000579286.5:n.757T>C | ||
| ENST00000579886.2:c.414T>C | ENSP00000463246.1:p.Phe138= | |
| ENST00000580365.1:n.307T>C | ||
| ENST00000581378.5:c.294T>C | ||
| ENST00000581562.5:n.525-316T>C | ||
| ENST00000583312.5:c.576T>C | ENSP00000467920.1:p.Phe192= | |
| ENST00000583760.1:n.358T>C | ||
| NM_000018.3:c.576T>C | NP_000009.1:p.Phe192= | |
| NM_001033859.2:c.510T>C | NP_001029031.1:p.Phe170= | |
| NM_001270447.1:c.645T>C | NP_001257376.1:p.Phe215= | |
| NM_001270448.1:c.348T>C | NP_001257377.1:p.Phe116= | |
| XM_006721516.2:c.576T>C | XP_006721579.2:p.Phe192= | |
| XM_011523829.1:c.576T>C | XP_011522131.1:p.Phe192= | |
| XM_011523830.1:c.576T>C | XP_011522132.1:p.Phe192= | |
| XR_934021.1:n.683T>C | ||
| XR_934022.1:n.683T>C | ||
| XR_934023.1:n.683T>C | ||
| XM_006721516.3:c.576T>C | XP_006721579.2:p.Phe192= | |
| XM_011523829.2:c.576T>C | XP_011522131.1:p.Phe192= | |
| XM_011523830.2:c.576T>C | XP_011522132.1:p.Phe192= | |
| XM_024450741.1:c.576T>C | XP_024306509.1:p.Phe192= | |
| XR_934021.2:n.635T>C | ||
| XR_934022.2:n.635T>C | ||
| XR_934023.2:n.635T>C | ||
| NM_000018.4:c.576T>C MANE Select | NP_000009.1:p.Phe192= | |
| NM_001033859.3:c.510T>C | NP_001029031.1:p.Phe170= | |
| NM_001270447.2:c.645T>C | NP_001257376.1:p.Phe215= | |
| NM_001270448.2:c.348T>C | NP_001257377.1:p.Phe116= |