Linked Data
ClinVar Variation Id:
30879
ClinVar RCV Id:
RCV000023864
dbSNP Id:
rs144411158
ExAC:
17:66551883 G / A
gnomAD v2:
17-66551883-G-A
gnomAD v3:
17-68555742-G-A
gnomAD v4:
17-68555742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68555742G>A , CM000679.2:g.68555742G>A | GRCh38 |
| NC_000017.10:g.66551883G>A , CM000679.1:g.66551883G>A | GRCh37 |
| NC_000017.9:g.64063478G>A | NCBI36 |
| NG_029809.1:g.50213C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592554.2:c.406C>T MANE Select | ENSP00000468308.1:p.Arg136Ter | |
| ENST00000226094.9:n.63C>T | ||
| ENST00000590074.5:c.562C>T | ||
| ENST00000592554.1:c.406C>T | ENSP00000468308.1:p.Arg136Ter | |
| ENST00000592847.1:n.48C>T | ||
| NM_001243746.1:c.-9C>T | NP_001230675.1:n.-9C>T | |
| NM_017565.3:c.406C>T | NP_060035.2:p.Arg136Ter | |
| NR_027751.1:n.100C>T | ||
| XM_006721959.2:c.-9C>T | XP_006722022.1:n.-9C>T | |
| XM_006721960.2:c.406C>T | XP_006722023.1:p.Arg136Ter | |
| XM_011524917.1:c.406C>T | XP_011523219.1:p.Arg136Ter | |
| XM_011524918.1:c.406C>T | XP_011523220.1:p.Arg136Ter | |
| XM_011524919.1:c.406C>T | XP_011523221.1:p.Arg136Ter | |
| XM_011524920.1:c.406C>T | XP_011523222.1:p.Arg136Ter | |
| XM_011524921.1:c.406C>T | XP_011523223.1:p.Arg136Ter | |
| XR_429905.1:n.534C>T | ||
| XR_934486.1:n.534C>T | ||
| XR_934487.1:n.534C>T | ||
| XR_934488.1:n.534C>T | ||
| XR_934489.1:n.534C>T | ||
| XR_934490.1:n.534C>T | ||
| XM_006721959.3:c.-9C>T | XP_006722022.1:n.-9C>T | |
| XM_011524918.3:c.406C>T | XP_011523220.1:p.Arg136Ter | |
| XM_017024781.2:c.406C>T | XP_016880270.1:p.Arg136Ter | |
| XR_001752543.2:n.477C>T | ||
| XR_001752544.2:n.477C>T | ||
| XR_002958041.1:n.477C>T | ||
| XR_429905.2:n.477C>T | ||
| XR_934487.3:n.477C>T | ||
| NM_017565.4:c.406C>T MANE Select | NP_060035.2:p.Arg136Ter | |
| NM_001243746.2:c.-9C>T | NP_001230675.1:n.-9C>T | |
| NR_027751.2:n.100C>T |