Linked Data
dbSNP Id:
rs144411158
gnomAD v2:
17-66551883-G-T
gnomAD v3:
17-68555742-G-T
gnomAD v4:
17-68555742-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68555742G>T , CM000679.2:g.68555742G>T | GRCh38 |
| NC_000017.10:g.66551883G>T , CM000679.1:g.66551883G>T | GRCh37 |
| NC_000017.9:g.64063478G>T | NCBI36 |
| NG_029809.1:g.50213C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592554.2:c.406C>A MANE Select | ENSP00000468308.1:p.Arg136= | |
| ENST00000226094.9:n.63C>A | ||
| ENST00000590074.5:c.562C>A | ||
| ENST00000592554.1:c.406C>A | ENSP00000468308.1:p.Arg136= | |
| ENST00000592847.1:n.48C>A | ||
| NM_001243746.1:c.-9C>A | NP_001230675.1:n.-9C>A | |
| NM_017565.3:c.406C>A | NP_060035.2:p.Arg136= | |
| NR_027751.1:n.100C>A | ||
| XM_006721959.2:c.-9C>A | XP_006722022.1:n.-9C>A | |
| XM_006721960.2:c.406C>A | XP_006722023.1:p.Arg136= | |
| XM_011524917.1:c.406C>A | XP_011523219.1:p.Arg136= | |
| XM_011524918.1:c.406C>A | XP_011523220.1:p.Arg136= | |
| XM_011524919.1:c.406C>A | XP_011523221.1:p.Arg136= | |
| XM_011524920.1:c.406C>A | XP_011523222.1:p.Arg136= | |
| XM_011524921.1:c.406C>A | XP_011523223.1:p.Arg136= | |
| XR_429905.1:n.534C>A | ||
| XR_934486.1:n.534C>A | ||
| XR_934487.1:n.534C>A | ||
| XR_934488.1:n.534C>A | ||
| XR_934489.1:n.534C>A | ||
| XR_934490.1:n.534C>A | ||
| XM_006721959.3:c.-9C>A | XP_006722022.1:n.-9C>A | |
| XM_011524918.3:c.406C>A | XP_011523220.1:p.Arg136= | |
| XM_017024781.2:c.406C>A | XP_016880270.1:p.Arg136= | |
| XR_001752543.2:n.477C>A | ||
| XR_001752544.2:n.477C>A | ||
| XR_002958041.1:n.477C>A | ||
| XR_429905.2:n.477C>A | ||
| XR_934487.3:n.477C>A | ||
| NM_017565.4:c.406C>A MANE Select | NP_060035.2:p.Arg136= | |
| NM_001243746.2:c.-9C>A | NP_001230675.1:n.-9C>A | |
| NR_027751.2:n.100C>A |