Linked Data
ClinVar Variation Id:
415845
dbSNP Id:
rs45587137
ExAC:
19:47112141 C / T
gnomAD v2:
19-47112141-C-T
gnomAD v3:
19-46608884-C-T
gnomAD v4:
19-46608884-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46608884C>T , CM000681.2:g.46608884C>T | GRCh38 |
| NC_000019.9:g.47112141C>T , CM000681.1:g.47112141C>T | GRCh37 |
| NC_000019.8:g.51803981C>T | NCBI36 |
| NG_051331.1:g.12811C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291295.14:c.324C>T MANE Select | ENSP00000291295.8:p.His108= | |
| ENST00000595072.2:n.2753C>T | ||
| ENST00000602169.2:c.*360C>T | ENSP00000499372.1:n.*360C>T | |
| ENST00000291295.13:c.324C>T | ENSP00000291295.8:p.His108= | |
| ENST00000391918.6:c.216C>T | ENSP00000375785.2:p.His72= | |
| ENST00000477244.5:n.448C>T | ||
| ENST00000482455.5:n.434C>T | ||
| ENST00000486500.1:n.782C>T | ||
| ENST00000594523.5:c.216C>T | ENSP00000468877.1:p.His72= | |
| ENST00000595072.1:n.514C>T | ||
| ENST00000596362.1:c.324C>T | ENSP00000472141.1:p.His108= | |
| ENST00000597743.5:c.166-40C>T | ENSP00000470308.1:n.166-40C>T | |
| ENST00000597868.5:n.649C>T | ||
| ENST00000598871.5:c.216C>T | ENSP00000470502.1:p.His72= | |
| ENST00000599839.5:c.216C>T | ENSP00000471225.1:p.His72= | |
| NM_005184.2:c.324C>T | NP_005175.2:p.His108= | |
| NM_001329921.1:c.216C>T | NP_001316850.1:p.His72= | |
| NM_001329922.1:c.324C>T | NP_001316851.1:p.His108= | |
| NM_001329923.1:c.216C>T | NP_001316852.1:p.His72= | |
| NM_001329924.1:c.216C>T | NP_001316853.1:p.His72= | |
| NM_001329925.1:c.216C>T | NP_001316854.1:p.His72= | |
| NM_001329926.1:c.216C>T | NP_001316855.1:p.His72= | |
| NM_005184.3:c.324C>T | NP_005175.2:p.His108= | |
| NM_001329924.2:c.216C>T | NP_001316853.1:p.His72= | |
| NM_001329925.2:c.216C>T | NP_001316854.1:p.His72= | |
| NM_001329926.2:c.216C>T | NP_001316855.1:p.His72= | |
| NM_005184.4:c.324C>T MANE Select | NP_005175.2:p.His108= |