Linked Data
ClinVar Variation Id:
456104
dbSNP Id:
rs200093209
ExAC:
16:89825110 C / G
gnomAD v2:
16-89825110-C-G
gnomAD v3:
16-89758702-C-G
gnomAD v4:
16-89758702-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89758702C>G , CM000678.2:g.89758702C>G | GRCh38 |
| NC_000016.9:g.89825110C>G , CM000678.1:g.89825110C>G | GRCh37 |
| NC_000016.8:g.88352611C>G | NCBI36 |
| NG_011706.1:g.62956G>C , LRG_495:g.62956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1459+3247G>C | ENSP00000512522.1:n.*1459+3247G>C | |
| ENST00000564475.6:c.2856G>C | ENSP00000454977.2:p.Gln952His | |
| ENST00000567510.2:c.1551+3247G>C | ENSP00000455969.1:n.1551+3247G>C | |
| ENST00000568369.6:c.2856G>C | ENSP00000456829.1:p.Gln952His | |
| ENST00000696274.1:n.2817G>C | ||
| ENST00000696275.1:c.*2091G>C | ENSP00000512517.1:n.*2091G>C | |
| ENST00000696286.1:c.2856G>C | ENSP00000512523.1:p.Gln952His | |
| ENST00000696287.1:c.2852+3247G>C | ENSP00000512524.1:n.2852+3247G>C | |
| ENST00000696291.1:c.*2498+6188G>C | ENSP00000512530.1:n.*2498+6188G>C | |
| ENST00000389301.8:c.2856G>C MANE Select | ENSP00000373952.3:p.Gln952His | |
| ENST00000305699.15:n.224+3247G>C | ||
| ENST00000389301.7:c.2856G>C | ENSP00000373952.3:p.Gln952His | |
| ENST00000561660.1:c.233G>C | ||
| ENST00000563318.1:c.418G>C | ||
| ENST00000563510.5:c.371+3247G>C | ||
| ENST00000567988.5:c.193G>C | ||
| ENST00000568369.5:c.2856G>C | ENSP00000456829.1:p.Gln952His | |
| NM_000135.2:c.2856G>C , LRG_495t1:c.2856G>C | NP_000126.2:p.Gln952His | |
| NM_001286167.1:c.2856G>C | NP_001273096.1:p.Gln952His | |
| XM_005256294.3:c.2856G>C | XP_005256351.1:p.Gln952His | |
| XM_011522945.1:c.2852+3247G>C | XP_011521247.1:n.2852+3247G>C | |
| XM_011522946.1:c.1833G>C | XP_011521248.1:p.Gln611His | |
| XM_011522947.1:c.1833G>C | XP_011521249.1:p.Gln611His | |
| XR_933244.1:n.2899G>C | ||
| XR_933245.1:n.2899G>C | ||
| XR_933246.1:n.2899G>C | ||
| NM_000135.3:c.2856G>C | NP_000126.2:p.Gln952His | |
| NM_001286167.2:c.2856G>C | NP_001273096.1:p.Gln952His | |
| XM_005256294.4:c.2856G>C | XP_005256351.1:p.Gln952His | |
| XM_011522945.2:c.2852+3247G>C | XP_011521247.1:n.2852+3247G>C | |
| XM_011522946.3:c.1833G>C | XP_011521248.1:p.Gln611His | |
| XM_011522947.2:c.1833G>C | XP_011521249.1:p.Gln611His | |
| XM_017023044.2:c.2852+3247G>C | XP_016878533.1:n.2852+3247G>C | |
| XM_024450189.1:c.1833G>C | XP_024305957.1:p.Gln611His | |
| XR_001751866.1:n.2899G>C | ||
| XR_933244.2:n.2899G>C | ||
| XR_933245.2:n.2899G>C | ||
| NM_000135.4:c.2856G>C MANE Select | NP_000126.2:p.Gln952His | |
| NM_001286167.3:c.2856G>C | NP_001273096.1:p.Gln952His |