Linked Data
ClinVar Variation Id:
2198274
ClinVar RCV Id:
RCV002629263
dbSNP Id:
rs762152455
ExAC:
17:7125576 A / T
gnomAD v2:
17-7125576-A-T
gnomAD v3:
17-7222257-A-T
gnomAD v4:
17-7222257-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222257A>T , CM000679.2:g.7222257A>T | GRCh38 |
| NC_000017.10:g.7125576A>T , CM000679.1:g.7125576A>T | GRCh37 |
| NC_000017.9:g.7066300A>T | NCBI36 |
| NG_007975.1:g.7424A>T | |
| NG_008391.2:g.2794T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.833A>T MANE Select | ENSP00000349297.5:p.Lys278Met | |
| ENST00000322910.9:c.*788A>T | ENSP00000325395.5:n.*788A>T | |
| ENST00000350303.9:c.767A>T | ENSP00000344152.5:p.Lys256Met | |
| ENST00000356839.9:c.833A>T | ENSP00000349297.5:p.Lys278Met | |
| ENST00000543245.6:c.902A>T | ENSP00000438689.2:p.Lys301Met | |
| ENST00000577191.5:n.1005A>T | ||
| ENST00000581378.5:c.551A>T | ||
| ENST00000582379.1:n.217A>T | ||
| NM_000018.3:c.833A>T | NP_000009.1:p.Lys278Met | |
| NM_001033859.2:c.767A>T | NP_001029031.1:p.Lys256Met | |
| NM_001270447.1:c.902A>T | NP_001257376.1:p.Lys301Met | |
| NM_001270448.1:c.605A>T | NP_001257377.1:p.Lys202Met | |
| XM_006721516.2:c.833A>T | XP_006721579.2:p.Lys278Met | |
| XM_011523829.1:c.833A>T | XP_011522131.1:p.Lys278Met | |
| XM_011523830.1:c.833A>T | XP_011522132.1:p.Lys278Met | |
| XR_934021.1:n.940A>T | ||
| XR_934022.1:n.940A>T | ||
| XR_934023.1:n.940A>T | ||
| XM_006721516.3:c.833A>T | XP_006721579.2:p.Lys278Met | |
| XM_011523829.2:c.833A>T | XP_011522131.1:p.Lys278Met | |
| XM_011523830.2:c.833A>T | XP_011522132.1:p.Lys278Met | |
| XM_024450741.1:c.833A>T | XP_024306509.1:p.Lys278Met | |
| XR_934021.2:n.892A>T | ||
| XR_934022.2:n.892A>T | ||
| XR_934023.2:n.892A>T | ||
| NM_000018.4:c.833A>T MANE Select | NP_000009.1:p.Lys278Met | |
| NM_001033859.3:c.767A>T | NP_001029031.1:p.Lys256Met | |
| NM_001270447.2:c.902A>T | NP_001257376.1:p.Lys301Met | |
| NM_001270448.2:c.605A>T | NP_001257377.1:p.Lys202Met |