Linked Data
ClinVar Variation Id:
412626
dbSNP Id:
rs746118697
ExAC:
1:193181190 C / T
gnomAD v2:
1-193181190-C-T
gnomAD v3:
1-193212060-C-T
gnomAD v4:
1-193212060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193212060C>T , CM000663.2:g.193212060C>T | GRCh38 |
| NC_000001.10:g.193181190C>T , CM000663.1:g.193181190C>T | GRCh37 |
| NC_000001.9:g.191447813C>T | NCBI36 |
| NG_012691.1:g.95103C>T , LRG_507:g.95103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1031-5C>T MANE Select | ENSP00000356405.4:n.1031-5C>T | |
| ENST00000635846.1:c.788-5C>T | ENSP00000490035.1:n.788-5C>T | |
| ENST00000643006.1:c.1099-5C>T | ENSP00000496633.1:n.1099-5C>T | |
| ENST00000648071.1:c.*1007-5C>T | ENSP00000497513.1:n.*1007-5C>T | |
| ENST00000649613.1:n.281-5C>T | ||
| ENST00000649895.1:n.1249-5C>T | ||
| ENST00000650197.1:c.1031-5C>T | ENSP00000496929.1:n.1031-5C>T | |
| ENST00000367435.3:c.1031-5C>T | ENSP00000356405.3:n.1031-5C>T | |
| NM_024529.4:c.1031-5C>T , LRG_507t1:c.1031-5C>T | NP_078805.3:n.1031-5C>T | |
| NM_024529.5:c.1031-5C>T MANE Select | NP_078805.3:n.1031-5C>T |