Linked Data
ClinVar Variation Id:
2445534
ClinVar RCV Id:
RCV003154943
dbSNP Id:
rs770806810
ExAC:
17:75398314 C / T
gnomAD v2:
17-75398314-C-T
gnomAD v3:
17-77402232-C-T
gnomAD v4:
17-77402232-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77402232C>T , CM000679.2:g.77402232C>T | GRCh38 |
| NC_000017.10:g.75398314C>T , CM000679.1:g.75398314C>T | GRCh37 |
| NC_000017.9:g.72909909C>T | NCBI36 |
| NG_011683.1:g.125823C>T | |
| NG_011683.2:g.125823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.196C>T MANE Plus Clinical | ENSP00000329161.8:p.Arg66Cys | |
| ENST00000427177.6:c.250C>T MANE Select | ENSP00000391249.1:p.Arg84Cys | |
| ENST00000588690.6:c.-243C>T | ENSP00000468668.1:n.-243C>T | |
| ENST00000590294.6:n.299C>T | ||
| ENST00000329047.12:c.196C>T | ENSP00000329161.8:p.Arg66Cys | |
| ENST00000423034.6:c.229C>T | ENSP00000405877.1:p.Arg77Cys | |
| ENST00000427177.5:c.250C>T | ENSP00000391249.1:p.Arg84Cys | |
| ENST00000427674.6:c.-243C>T | ENSP00000403194.1:n.-243C>T | |
| ENST00000431235.6:c.-243C>T | ENSP00000406987.2:n.-243C>T | |
| ENST00000449803.6:c.-243C>T | ENSP00000400181.2:n.-243C>T | |
| ENST00000586812.1:n.309C>T | ||
| ENST00000587514.1:n.379C>T | ||
| ENST00000588575.1:c.37-105C>T | ENSP00000468090.1:n.37-105C>T | |
| ENST00000588690.5:c.-243C>T | ENSP00000468668.1:n.-243C>T | |
| ENST00000589070.1:c.205C>T | ENSP00000465332.1:p.Arg69Cys | |
| ENST00000589140.1:c.205C>T | ENSP00000466997.1:p.Arg69Cys | |
| ENST00000590059.5:c.25-324C>T | ENSP00000466164.1:n.25-324C>T | |
| ENST00000590294.5:c.196C>T | ENSP00000465464.1:p.Arg66Cys | |
| ENST00000590576.5:c.*250C>T | ENSP00000465600.1:n.*250C>T | |
| ENST00000590586.1:n.355C>T | ||
| ENST00000590595.1:c.37-105C>T | ENSP00000465026.1:n.37-105C>T | |
| ENST00000590825.1:c.-243C>T | ENSP00000468244.1:n.-243C>T | |
| ENST00000591198.5:c.193C>T | ENSP00000468406.1:p.Arg65Cys | |
| ENST00000591833.5:c.*245C>T | ENSP00000466684.1:n.*245C>T | |
| ENST00000591934.1:c.271C>T | ENSP00000468504.1:p.Arg91Cys | |
| ENST00000592098.1:n.280C>T | ||
| ENST00000592420.1:c.-324C>T | ENSP00000467051.1:n.-324C>T | |
| NM_001113491.1:c.250C>T | NP_001106963.1:p.Arg84Cys | |
| NM_001113492.1:c.-243C>T | NP_001106964.1:n.-243C>T | |
| NM_001113493.1:c.229C>T | NP_001106965.1:p.Arg77Cys | |
| NM_001113494.1:c.-243C>T | NP_001106966.1:n.-243C>T | |
| NM_001293695.1:c.193C>T | NP_001280624.1:p.Arg65Cys | |
| NM_006640.4:c.196C>T | NP_006631.2:p.Arg66Cys | |
| XM_006721643.2:c.-243C>T | XP_006721706.1:n.-243C>T | |
| XM_011524204.1:c.343C>T | XP_011522506.1:p.Arg115Cys | |
| XM_011524205.1:c.340C>T | XP_011522507.1:p.Arg114Cys | |
| XM_011524206.1:c.205C>T | XP_011522508.1:p.Arg69Cys | |
| XM_011524207.1:c.-243C>T | XP_011522509.1:n.-243C>T | |
| NM_001113491.2:c.250C>T MANE Select | NP_001106963.1:p.Arg84Cys | |
| NM_001113493.2:c.229C>T | NP_001106965.1:p.Arg77Cys | |
| NM_001293695.2:c.193C>T | NP_001280624.1:p.Arg65Cys | |
| NM_001113492.2:c.-243C>T | NP_001106964.1:n.-243C>T | |
| NM_006640.5:c.196C>T MANE Plus Clinical | NP_006631.2:p.Arg66Cys |