Linked Data
ClinVar Variation Id:
321341
dbSNP Id:
rs150884376
ExAC:
16:89816239 G / A
gnomAD v2:
16-89816239-G-A
gnomAD v3:
16-89749831-G-A
gnomAD v4:
16-89749831-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89749831G>A , CM000678.2:g.89749831G>A | GRCh38 |
| NC_000016.9:g.89816239G>A , CM000678.1:g.89816239G>A | GRCh37 |
| NC_000016.8:g.88343740G>A | NCBI36 |
| NG_011706.1:g.71827C>T , LRG_495:g.71827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1616C>T | ENSP00000512522.1:n.*1616C>T | |
| ENST00000564475.6:c.3138C>T | ENSP00000454977.2:p.His1046= | |
| ENST00000567510.2:c.1708C>T | ENSP00000455969.1:n.1708C>T | |
| ENST00000568369.6:c.3138C>T | ENSP00000456829.1:p.His1046= | |
| ENST00000568983.6:n.157C>T | ||
| ENST00000696274.1:n.3099C>T | ||
| ENST00000696275.1:c.*2373C>T | ENSP00000512517.1:n.*2373C>T | |
| ENST00000696286.1:c.3138C>T | ENSP00000512523.1:p.His1046= | |
| ENST00000696287.1:c.3009C>T | ENSP00000512524.1:p.His1003= | |
| ENST00000696291.1:c.*2570C>T | ENSP00000512530.1:n.*2570C>T | |
| ENST00000389301.8:c.3138C>T MANE Select | ENSP00000373952.3:p.His1046= | |
| ENST00000305699.15:n.381C>T | ||
| ENST00000389301.7:c.3138C>T | ENSP00000373952.3:p.His1046= | |
| ENST00000561660.1:c.444-1064C>T | ||
| ENST00000563510.5:c.528C>T | ||
| ENST00000567988.5:c.390C>T | ||
| ENST00000568369.5:c.3138C>T | ENSP00000456829.1:p.His1046= | |
| NM_000135.2:c.3138C>T , LRG_495t1:c.3138C>T | NP_000126.2:p.His1046= | |
| NM_001286167.1:c.3138C>T | NP_001273096.1:p.His1046= | |
| XM_005256294.3:c.3138C>T | XP_005256351.1:p.His1046= | |
| XM_011522945.1:c.3009C>T | XP_011521247.1:p.His1003= | |
| XM_011522946.1:c.2115C>T | XP_011521248.1:p.His705= | |
| XM_011522947.1:c.2115C>T | XP_011521249.1:p.His705= | |
| XR_933244.1:n.3181C>T | ||
| XR_933245.1:n.3181C>T | ||
| XR_933246.1:n.3110-1064C>T | ||
| NM_000135.3:c.3138C>T | NP_000126.2:p.His1046= | |
| NM_001286167.2:c.3138C>T | NP_001273096.1:p.His1046= | |
| XM_005256294.4:c.3138C>T | XP_005256351.1:p.His1046= | |
| XM_011522945.2:c.3009C>T | XP_011521247.1:p.His1003= | |
| XM_011522946.3:c.2115C>T | XP_011521248.1:p.His705= | |
| XM_011522947.2:c.2115C>T | XP_011521249.1:p.His705= | |
| XM_017023044.2:c.3009C>T | XP_016878533.1:p.His1003= | |
| XM_024450189.1:c.2115C>T | XP_024305957.1:p.His705= | |
| XR_001751866.1:n.3110-1064C>T | ||
| XR_933244.2:n.3181C>T | ||
| XR_933245.2:n.3181C>T | ||
| NM_000135.4:c.3138C>T MANE Select | NP_000126.2:p.His1046= | |
| NM_001286167.3:c.3138C>T | NP_001273096.1:p.His1046= |