Linked Data
ClinVar Variation Id:
932860
ClinVar RCV Id:
RCV001200820
dbSNP Id:
rs751423064
ExAC:
17:7124863 C / T
gnomAD v2:
17-7124863-C-T
gnomAD v4:
17-7221544-C-T
COSMIC:
COSM5504250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221544C>T , CM000679.2:g.7221544C>T | GRCh38 |
| NC_000017.10:g.7124863C>T , CM000679.1:g.7124863C>T | GRCh37 |
| NC_000017.9:g.7065587C>T | NCBI36 |
| NG_007975.1:g.6711C>T | |
| NG_008391.2:g.3507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.484C>T MANE Select | ENSP00000349297.5:p.Arg162Cys | |
| ENST00000322910.9:c.*439C>T | ENSP00000325395.5:n.*439C>T | |
| ENST00000350303.9:c.418C>T | ENSP00000344152.5:p.Arg140Cys | |
| ENST00000356839.9:c.484C>T | ENSP00000349297.5:p.Arg162Cys | |
| ENST00000543245.6:c.553C>T | ENSP00000438689.2:p.Arg185Cys | |
| ENST00000577191.5:n.561C>T | ||
| ENST00000577433.5:n.692C>T | ||
| ENST00000577857.5:n.300C>T | ||
| ENST00000579286.5:n.665C>T | ||
| ENST00000579886.2:c.322C>T | ENSP00000463246.1:p.Arg108Cys | |
| ENST00000580365.1:n.215C>T | ||
| ENST00000581378.5:c.202C>T | ||
| ENST00000581562.5:n.525-408C>T | ||
| ENST00000582166.1:n.465C>T | ||
| ENST00000583312.5:c.484C>T | ENSP00000467920.1:p.Arg162Cys | |
| ENST00000583760.1:n.266C>T | ||
| NM_000018.3:c.484C>T | NP_000009.1:p.Arg162Cys | |
| NM_001033859.2:c.418C>T | NP_001029031.1:p.Arg140Cys | |
| NM_001270447.1:c.553C>T | NP_001257376.1:p.Arg185Cys | |
| NM_001270448.1:c.256C>T | NP_001257377.1:p.Arg86Cys | |
| XM_006721516.2:c.484C>T | XP_006721579.2:p.Arg162Cys | |
| XM_011523829.1:c.484C>T | XP_011522131.1:p.Arg162Cys | |
| XM_011523830.1:c.484C>T | XP_011522132.1:p.Arg162Cys | |
| XR_934021.1:n.591C>T | ||
| XR_934022.1:n.591C>T | ||
| XR_934023.1:n.591C>T | ||
| XM_006721516.3:c.484C>T | XP_006721579.2:p.Arg162Cys | |
| XM_011523829.2:c.484C>T | XP_011522131.1:p.Arg162Cys | |
| XM_011523830.2:c.484C>T | XP_011522132.1:p.Arg162Cys | |
| XM_024450741.1:c.484C>T | XP_024306509.1:p.Arg162Cys | |
| XR_934021.2:n.543C>T | ||
| XR_934022.2:n.543C>T | ||
| XR_934023.2:n.543C>T | ||
| NM_000018.4:c.484C>T MANE Select | NP_000009.1:p.Arg162Cys | |
| NM_001033859.3:c.418C>T | NP_001029031.1:p.Arg140Cys | |
| NM_001270447.2:c.553C>T | NP_001257376.1:p.Arg185Cys | |
| NM_001270448.2:c.256C>T | NP_001257377.1:p.Arg86Cys |