Linked Data
ClinVar Variation Id:
292810
dbSNP Id:
rs141571402
ExAC:
1:155264320 G / T
gnomAD v2:
1-155264320-G-T
gnomAD v3:
1-155294529-G-T
gnomAD v4:
1-155294529-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294529G>T , CM000663.2:g.155294529G>T | GRCh38 |
| NC_000001.10:g.155264320G>T , CM000663.1:g.155264320G>T | GRCh37 |
| NC_000001.9:g.153530944G>T | NCBI36 |
| NG_011677.1:g.11906C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.918C>A MANE Select | ENSP00000339933.4:p.His306Gln | |
| ENST00000342741.4:c.918C>A | ENSP00000339933.4:p.His306Gln | |
| ENST00000392414.7:c.825C>A | ENSP00000376214.3:p.His275Gln | |
| NM_000298.5:c.918C>A | NP_000289.1:p.His306Gln | |
| NM_181871.3:c.825C>A | NP_870986.1:p.His275Gln | |
| XM_005245266.3:c.1077C>A | XP_005245323.1:p.His359Gln | |
| XM_006711386.2:c.726C>A | XP_006711449.1:p.His242Gln | |
| XM_011509639.1:c.1077C>A | XP_011507941.1:p.His359Gln | |
| XM_011509640.1:c.726C>A | XP_011507942.1:p.His242Gln | |
| NM_000298.6:c.918C>A MANE Select | NP_000289.1:p.His306Gln | |
| XM_006711386.4:c.726C>A | XP_006711449.1:p.His242Gln | |
| XM_011509640.3:c.726C>A | XP_011507942.1:p.His242Gln | |
| XM_017001493.1:c.918C>A | XP_016856982.1:p.His306Gln | |
| NM_181871.4:c.825C>A | NP_870986.1:p.His275Gln |