Linked Data
ClinVar Variation Id:
456101
dbSNP Id:
rs139002130
ExAC:
16:89831418 C / G
gnomAD v2:
16-89831418-C-G
gnomAD v3:
16-89765010-C-G
gnomAD v4:
16-89765010-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89765010C>G , CM000678.2:g.89765010C>G | GRCh38 |
| NC_000016.9:g.89831418C>G , CM000678.1:g.89831418C>G | GRCh37 |
| NC_000016.8:g.88358919C>G | NCBI36 |
| NG_011706.1:g.56648G>C , LRG_495:g.56648G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1152G>C | ENSP00000512522.1:n.*1152G>C | |
| ENST00000564475.6:c.2658G>C | ENSP00000454977.2:p.Glu886Asp | |
| ENST00000567510.2:c.1357G>C | ENSP00000455969.1:n.1357G>C | |
| ENST00000568369.6:c.2658G>C | ENSP00000456829.1:p.Glu886Asp | |
| ENST00000696274.1:n.2619G>C | ||
| ENST00000696275.1:c.*1893G>C | ENSP00000512517.1:n.*1893G>C | |
| ENST00000696276.1:n.2701G>C | ||
| ENST00000696286.1:c.2658G>C | ENSP00000512523.1:p.Glu886Asp | |
| ENST00000696287.1:c.2658G>C | ENSP00000512524.1:p.Glu886Asp | |
| ENST00000696291.1:c.*2378G>C | ENSP00000512530.1:n.*2378G>C | |
| ENST00000389301.8:c.2658G>C MANE Select | ENSP00000373952.3:p.Glu886Asp | |
| ENST00000305699.15:n.30G>C | ||
| ENST00000389301.7:c.2658G>C | ENSP00000373952.3:p.Glu886Asp | |
| ENST00000561660.1:c.35G>C | ||
| ENST00000563318.1:c.64G>C | ||
| ENST00000568369.5:c.2658G>C | ENSP00000456829.1:p.Glu886Asp | |
| NM_000135.2:c.2658G>C , LRG_495t1:c.2658G>C | NP_000126.2:p.Glu886Asp | |
| NM_001286167.1:c.2658G>C | NP_001273096.1:p.Glu886Asp | |
| XM_005256294.3:c.2658G>C | XP_005256351.1:p.Glu886Asp | |
| XM_011522945.1:c.2658G>C | XP_011521247.1:p.Glu886Asp | |
| XM_011522946.1:c.1635G>C | XP_011521248.1:p.Glu545Asp | |
| XM_011522947.1:c.1635G>C | XP_011521249.1:p.Glu545Asp | |
| XR_933244.1:n.2701G>C | ||
| XR_933245.1:n.2701G>C | ||
| XR_933246.1:n.2701G>C | ||
| NM_000135.3:c.2658G>C | NP_000126.2:p.Glu886Asp | |
| NM_001286167.2:c.2658G>C | NP_001273096.1:p.Glu886Asp | |
| XM_005256294.4:c.2658G>C | XP_005256351.1:p.Glu886Asp | |
| XM_011522945.2:c.2658G>C | XP_011521247.1:p.Glu886Asp | |
| XM_011522946.3:c.1635G>C | XP_011521248.1:p.Glu545Asp | |
| XM_011522947.2:c.1635G>C | XP_011521249.1:p.Glu545Asp | |
| XM_017023044.2:c.2658G>C | XP_016878533.1:p.Glu886Asp | |
| XM_017023045.1:c.2658G>C | XP_016878534.1:p.Glu886Asp | |
| XM_024450189.1:c.1635G>C | XP_024305957.1:p.Glu545Asp | |
| XR_001751866.1:n.2701G>C | ||
| XR_933244.2:n.2701G>C | ||
| XR_933245.2:n.2701G>C | ||
| XR_933247.2:n.2830G>C | ||
| NM_000135.4:c.2658G>C MANE Select | NP_000126.2:p.Glu886Asp | |
| NM_001286167.3:c.2658G>C | NP_001273096.1:p.Glu886Asp |