Linked Data
ClinVar Variation Id:
2958567
ClinVar RCV Id:
RCV003816790
dbSNP Id:
rs771620095
ExAC:
3:45518067 T / C
gnomAD v2:
3-45518067-T-C
gnomAD v4:
3-45476575-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45476575T>C , CM000665.2:g.45476575T>C | GRCh38 |
| NC_000003.11:g.45518067T>C , CM000665.1:g.45518067T>C | GRCh37 |
| NC_000003.10:g.45493071T>C | NCBI36 |
| NG_033907.1:g.92993T>C | |
| NG_033907.2:g.92993T>C | |
| NG_033907.3:g.93012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265537.8:c.966T>C | ENSP00000265537.4:p.His322= | |
| ENST00000642274.1:c.966T>C | ENSP00000495707.1:p.His322= | |
| ENST00000645846.2:c.966T>C MANE Select | ENSP00000495093.1:p.His322= | |
| ENST00000650792.2:c.966T>C | ENSP00000498867.1:p.His322= | |
| ENST00000651549.1:c.966T>C | ENSP00000499002.1:p.His322= | |
| ENST00000652135.1:c.*834T>C | ENSP00000499104.1:n.*834T>C | |
| ENST00000265537.7:c.966T>C | ENSP00000265537.3:p.His322= | |
| ENST00000414984.5:c.837T>C | ENSP00000412893.1:p.His279= | |
| ENST00000415258.5:c.966T>C | ENSP00000408576.1:p.His322= | |
| NM_015340.3:c.966T>C | NP_056155.1:p.His322= | |
| XM_005265006.1:c.966T>C | XP_005265063.1:p.His322= | |
| XM_011533554.1:c.966T>C | XP_011531856.1:p.His322= | |
| XM_005265006.2:c.966T>C | XP_005265063.1:p.His322= | |
| XM_011533554.2:c.966T>C | XP_011531856.1:p.His322= | |
| XM_017006042.1:c.966T>C | XP_016861531.1:p.His322= | |
| NM_015340.4:c.966T>C MANE Select | NP_056155.1:p.His322= | |
| NM_001368263.1:c.966T>C | NP_001355192.1:p.His322= |