Linked Data
ClinVar Variation Id:
1108135
ClinVar RCV Id:
RCV001433485
dbSNP Id:
rs1401286906
MyVariant Identifiers:
chr10:g.50669502G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461456G>C , CM000672.2:g.49461456G>C | GRCh38 |
| NC_000010.10:g.50669502G>C , CM000672.1:g.50669502G>C | GRCh37 |
| NC_000010.9:g.50339508G>C | NCBI36 |
| NG_009442.1:g.82646C>G , LRG_465:g.82646C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3879C>G MANE Select | ENSP00000348089.5:p.Ala1293= | |
| ENST00000679552.1:n.950C>G | ||
| ENST00000679871.1:n.1025C>G | ||
| ENST00000679974.1:n.928C>G | ||
| ENST00000681632.1:n.5282C>G | ||
| ENST00000681659.1:c.3720C>G | ENSP00000505631.1:p.Ala1240= | |
| ENST00000355832.9:c.3879C>G | ENSP00000348089.5:p.Ala1293= | |
| ENST00000465653.1:n.201C>G | ||
| ENST00000623073.3:c.*2175C>G | ENSP00000485650.1:n.*2175C>G | |
| ENST00000623115.3:c.1989C>G | ENSP00000485321.1:p.Ala663= | |
| ENST00000624341.3:c.1711C>G | ||
| NM_000124.3:c.3879C>G | NP_000115.1:p.Ala1293= | |
| XR_945953.1:n.243-10109G>C | ||
| NM_001346440.1:c.3879C>G | NP_001333369.1:p.Ala1293= | |
| NM_000124.4:c.3879C>G MANE Select | NP_000115.1:p.Ala1293= | |
| NM_001346440.2:c.3879C>G | NP_001333369.1:p.Ala1293= |