Linked Data
ClinVar Variation Id:
226708
dbSNP Id:
rs71645922
ExAC:
3:45518073 C / A
gnomAD v2:
3-45518073-C-A
gnomAD v3:
3-45476581-C-A
gnomAD v4:
3-45476581-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45476581C>A , CM000665.2:g.45476581C>A | GRCh38 |
| NC_000003.11:g.45518073C>A , CM000665.1:g.45518073C>A | GRCh37 |
| NC_000003.10:g.45493077C>A | NCBI36 |
| NG_033907.1:g.92999C>A | |
| NG_033907.2:g.92999C>A | |
| NG_033907.3:g.93018C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265537.8:c.972C>A | ENSP00000265537.4:p.His324Gln | |
| ENST00000642274.1:c.972C>A | ENSP00000495707.1:p.His324Gln | |
| ENST00000645846.2:c.972C>A MANE Select | ENSP00000495093.1:p.His324Gln | |
| ENST00000650792.2:c.972C>A | ENSP00000498867.1:p.His324Gln | |
| ENST00000651549.1:c.972C>A | ENSP00000499002.1:p.His324Gln | |
| ENST00000652135.1:c.*840C>A | ENSP00000499104.1:n.*840C>A | |
| ENST00000265537.7:c.972C>A | ENSP00000265537.3:p.His324Gln | |
| ENST00000414984.5:c.843C>A | ENSP00000412893.1:p.His281Gln | |
| ENST00000415258.5:c.972C>A | ENSP00000408576.1:p.His324Gln | |
| NM_015340.3:c.972C>A | NP_056155.1:p.His324Gln | |
| XM_005265006.1:c.972C>A | XP_005265063.1:p.His324Gln | |
| XM_011533554.1:c.972C>A | XP_011531856.1:p.His324Gln | |
| XM_005265006.2:c.972C>A | XP_005265063.1:p.His324Gln | |
| XM_011533554.2:c.972C>A | XP_011531856.1:p.His324Gln | |
| XM_017006042.1:c.972C>A | XP_016861531.1:p.His324Gln | |
| NM_015340.4:c.972C>A MANE Select | NP_056155.1:p.His324Gln | |
| NM_001368263.1:c.972C>A | NP_001355192.1:p.His324Gln |