Linked Data
ClinVar Variation Id:
2703464
ClinVar RCV Id:
RCV003528851
dbSNP Id:
rs1012612060
gnomAD v2:
11-125891299-C-T
gnomAD v3:
11-126021404-C-T
gnomAD v4:
11-126021404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126021404C>T , CM000673.2:g.126021404C>T | GRCh38 |
| NC_000011.9:g.125891299C>T , CM000673.1:g.125891299C>T | GRCh37 |
| NC_000011.8:g.125396509C>T | NCBI36 |
| NG_029776.1:g.46889G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682450.1:n.312G>A | ||
| ENST00000682556.1:n.399G>A | ||
| ENST00000682834.1:n.382G>A | ||
| ENST00000683716.1:c.193G>A | ENSP00000506883.1:p.Gly65Arg | |
| ENST00000684078.1:c.193G>A | ENSP00000507318.1:p.Gly65Arg | |
| ENST00000684167.1:n.599G>A | ||
| ENST00000684564.1:n.403G>A | ||
| ENST00000684636.1:c.193G>A | ENSP00000508160.1:p.Gly65Arg | |
| ENST00000525625.2:n.282G>A | ||
| ENST00000531738.6:c.193G>A MANE Select | ENSP00000432901.2:p.Gly65Arg | |
| ENST00000531830.2:c.117G>A | ||
| ENST00000263577.11:c.193G>A | ENSP00000263577.7:p.Gly65Arg | |
| ENST00000392693.7:c.193G>A | ENSP00000376458.3:p.Gly65Arg | |
| ENST00000525625.1:n.256G>A | ||
| ENST00000527967.5:c.193G>A | ENSP00000436940.1:p.Gly65Arg | |
| ENST00000531586.5:c.193G>A | ENSP00000434212.1:p.Gly65Arg | |
| ENST00000534661.5:c.119G>A | ||
| ENST00000534818.1:c.193G>A | ENSP00000437176.1:p.Gly65Arg | |
| NM_001243597.1:c.193G>A | NP_001230526.1:p.Gly65Arg | |
| NM_016952.4:c.193G>A | NP_058648.4:p.Gly65Arg | |
| XM_011542862.1:c.193G>A | XP_011541164.1:p.Gly65Arg | |
| XM_011542863.1:c.193G>A | XP_011541165.1:p.Gly65Arg | |
| XM_011542864.1:c.193G>A | XP_011541166.1:p.Gly65Arg | |
| XM_011542865.1:c.193G>A | XP_011541167.1:p.Gly65Arg | |
| XM_011542866.1:c.193G>A | XP_011541168.1:p.Gly65Arg | |
| XM_011542862.3:c.193G>A | XP_011541164.1:p.Gly65Arg | |
| XM_011542863.2:c.193G>A | XP_011541165.1:p.Gly65Arg | |
| XM_011542864.2:c.193G>A | XP_011541166.1:p.Gly65Arg | |
| XM_011542865.2:c.193G>A | XP_011541167.1:p.Gly65Arg | |
| XM_011542866.3:c.193G>A | XP_011541168.1:p.Gly65Arg | |
| XM_017017873.1:c.193G>A | XP_016873362.1:p.Gly65Arg | |
| XR_001747899.2:n.504G>A | ||
| NM_001243597.2:c.193G>A | NP_001230526.1:p.Gly65Arg | |
| NM_001378964.1:c.193G>A MANE Select | NP_001365893.1:p.Gly65Arg | |
| NM_016952.5:c.193G>A | NP_058648.4:p.Gly65Arg |