Linked Data
ClinVar Variation Id:
439358
ClinVar RCV Id:
RCV000506135
dbSNP Id:
rs141167669
ExAC:
17:7125395 G / C
gnomAD v2:
17-7125395-G-C
gnomAD v4:
17-7222076-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222076G>C , CM000679.2:g.7222076G>C | GRCh38 |
| NC_000017.10:g.7125395G>C , CM000679.1:g.7125395G>C | GRCh37 |
| NC_000017.9:g.7066119G>C | NCBI36 |
| NG_007975.1:g.7243G>C | |
| NG_008391.2:g.2975C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.747G>C MANE Select | ENSP00000349297.5:p.Trp249Cys | |
| ENST00000322910.9:c.*702G>C | ENSP00000325395.5:n.*702G>C | |
| ENST00000350303.9:c.681G>C | ENSP00000344152.5:p.Trp227Cys | |
| ENST00000356839.9:c.747G>C | ENSP00000349297.5:p.Trp249Cys | |
| ENST00000543245.6:c.816G>C | ENSP00000438689.2:p.Trp272Cys | |
| ENST00000577191.5:n.824G>C | ||
| ENST00000577857.5:n.563G>C | ||
| ENST00000579286.5:n.928G>C | ||
| ENST00000580365.1:n.478G>C | ||
| ENST00000581378.5:c.465G>C | ||
| ENST00000582379.1:n.131G>C | ||
| ENST00000583760.1:n.529G>C | ||
| NM_000018.3:c.747G>C | NP_000009.1:p.Trp249Cys | |
| NM_001033859.2:c.681G>C | NP_001029031.1:p.Trp227Cys | |
| NM_001270447.1:c.816G>C | NP_001257376.1:p.Trp272Cys | |
| NM_001270448.1:c.519G>C | NP_001257377.1:p.Trp173Cys | |
| XM_006721516.2:c.747G>C | XP_006721579.2:p.Trp249Cys | |
| XM_011523829.1:c.747G>C | XP_011522131.1:p.Trp249Cys | |
| XM_011523830.1:c.747G>C | XP_011522132.1:p.Trp249Cys | |
| XR_934021.1:n.854G>C | ||
| XR_934022.1:n.854G>C | ||
| XR_934023.1:n.854G>C | ||
| XM_006721516.3:c.747G>C | XP_006721579.2:p.Trp249Cys | |
| XM_011523829.2:c.747G>C | XP_011522131.1:p.Trp249Cys | |
| XM_011523830.2:c.747G>C | XP_011522132.1:p.Trp249Cys | |
| XM_024450741.1:c.747G>C | XP_024306509.1:p.Trp249Cys | |
| XR_934021.2:n.806G>C | ||
| XR_934022.2:n.806G>C | ||
| XR_934023.2:n.806G>C | ||
| NM_000018.4:c.747G>C MANE Select | NP_000009.1:p.Trp249Cys | |
| NM_001033859.3:c.681G>C | NP_001029031.1:p.Trp227Cys | |
| NM_001270447.2:c.816G>C | NP_001257376.1:p.Trp272Cys | |
| NM_001270448.2:c.519G>C | NP_001257377.1:p.Trp173Cys |