Linked Data
ClinVar Variation Id:
332226
dbSNP Id:
rs769404
ExAC:
2:171678625 T / C
gnomAD v2:
2-171678625-T-C
gnomAD v3:
2-170822115-T-C
gnomAD v4:
2-170822115-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170822115T>C , CM000664.2:g.170822115T>C | GRCh38 |
| NC_000002.11:g.171678625T>C , CM000664.1:g.171678625T>C | GRCh37 |
| NC_000002.10:g.171386871T>C | NCBI36 |
| NG_021477.1:g.10426T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358196.8:c.111T>C MANE Select | ENSP00000350928.3:p.His37= | |
| ENST00000344257.9:c.111T>C | ENSP00000341167.5:p.His37= | |
| ENST00000358196.7:c.111T>C | ENSP00000350928.3:p.His37= | |
| ENST00000375272.5:c.111T>C | ENSP00000364421.1:p.His37= | |
| ENST00000414527.6:c.111T>C | ENSP00000403849.1:p.His37= | |
| ENST00000429023.1:n.92T>C | ||
| ENST00000445006.5:c.111T>C | ENSP00000394948.1:p.His37= | |
| ENST00000454603.5:c.111T>C | ENSP00000402366.1:p.His37= | |
| ENST00000455008.5:c.111T>C | ENSP00000405917.1:p.His37= | |
| ENST00000456864.5:c.111T>C | ENSP00000394255.1:p.His37= | |
| ENST00000485013.1:n.398T>C | ||
| ENST00000486850.1:c.29T>C | ||
| ENST00000493875.5:c.111T>C | ENSP00000434696.1:p.His37= | |
| ENST00000625689.2:c.111T>C | ENSP00000486612.1:p.His37= | |
| NM_000817.2:c.111T>C | NP_000808.2:p.His37= | |
| NM_013445.3:c.111T>C | NP_038473.2:p.His37= | |
| XM_005246444.2:c.111T>C | XP_005246501.1:p.His37= | |
| XM_011510922.1:c.111T>C | XP_011509224.1:p.His37= | |
| XM_005246444.3:c.111T>C | XP_005246501.1:p.His37= | |
| XM_017003756.1:c.111T>C | XP_016859245.1:p.His37= | |
| XM_017003757.2:c.111T>C | XP_016859246.1:p.His37= | |
| XM_017003758.2:c.111T>C | XP_016859247.1:p.His37= | |
| NM_000817.3:c.111T>C MANE Select | NP_000808.2:p.His37= | |
| NM_013445.4:c.111T>C | NP_038473.2:p.His37= |