Linked Data
ClinVar Variation Id:
462756
dbSNP Id:
rs747811573
ExAC:
1:193099346 C / T
gnomAD v2:
1-193099346-C-T
gnomAD v3:
1-193130216-C-T
gnomAD v4:
1-193130216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193130216C>T , CM000663.2:g.193130216C>T | GRCh38 |
| NC_000001.10:g.193099346C>T , CM000663.1:g.193099346C>T | GRCh37 |
| NC_000001.9:g.191365969C>T | NCBI36 |
| NG_012691.1:g.13259C>T , LRG_507:g.13259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.280C>T MANE Select | ENSP00000356405.4:p.Leu94= | |
| ENST00000635846.1:c.280C>T | ENSP00000490035.1:p.Leu94= | |
| ENST00000643006.1:c.280C>T | ENSP00000496633.1:p.Leu94= | |
| ENST00000643784.1:c.280C>T | ENSP00000494944.1:p.Leu94= | |
| ENST00000647662.1:n.181C>T | ||
| ENST00000648071.1:c.*256C>T | ENSP00000497513.1:n.*256C>T | |
| ENST00000649606.1:n.293C>T | ||
| ENST00000649706.1:n.221C>T | ||
| ENST00000649895.1:n.498C>T | ||
| ENST00000650197.1:c.280C>T | ENSP00000496929.1:p.Leu94= | |
| ENST00000367435.3:c.280C>T | ENSP00000356405.3:p.Leu94= | |
| ENST00000482484.1:n.532C>T | ||
| NM_024529.4:c.280C>T , LRG_507t1:c.280C>T | NP_078805.3:p.Leu94= | |
| XM_006711537.2:c.280C>T | XP_006711600.1:p.Leu94= | |
| XR_241165.2:n.303+141G>A | ||
| XM_006711537.4:c.280C>T | XP_006711600.1:p.Leu94= | |
| NM_024529.5:c.280C>T MANE Select | NP_078805.3:p.Leu94= |