Linked Data
ClinVar Variation Id:
1175136
dbSNP Id:
rs1051886
ExAC:
12:49359989 G / A
gnomAD v2:
12-49359989-G-A
gnomAD v3:
12-48966206-G-A
gnomAD v4:
12-48966206-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48966206G>A , CM000674.2:g.48966206G>A | GRCh38 |
| NC_000012.11:g.49359989G>A , CM000674.1:g.49359989G>A | GRCh37 |
| NC_000012.10:g.47646256G>A | NCBI36 |
| NG_023347.1:g.10653C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301061.9:c.1059C>T MANE Select | ENSP00000301061.4:p.His353= | |
| ENST00000301061.8:c.1059C>T | ENSP00000301061.4:p.His353= | |
| ENST00000403957.5:c.*341C>T | ENSP00000385980.1:n.*341C>T | |
| ENST00000407467.5:c.*341C>T | ENSP00000384691.1:n.*341C>T | |
| NM_003394.3:c.1059C>T | NP_003385.2:p.His353= | |
| XM_011538721.1:c.693C>T | XP_011537023.1:p.His231= | |
| XM_011538722.1:c.693C>T | XP_011537024.1:p.His231= | |
| XM_011538724.1:c.*337C>T | XP_011537026.1:n.*337C>T | |
| XM_017019919.1:c.693C>T | XP_016875408.1:p.His231= | |
| XM_024449179.1:c.693C>T | XP_024304947.1:p.His231= | |
| NM_003394.4:c.1059C>T MANE Select | NP_003385.2:p.His353= |