Linked Data
ClinVar Variation Id:
722719
ClinVar RCV Id:
RCV000896393
dbSNP Id:
rs972620847
MyVariant Identifiers:
chr10:g.112338407C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578649C>G , CM000672.2:g.110578649C>G | GRCh38 |
| NC_000010.10:g.112338407C>G , CM000672.1:g.112338407C>G | GRCh37 |
| NC_000010.9:g.112328397C>G | NCBI36 |
| NG_012217.1:g.15959C>G , LRG_774:g.15959C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.505C>G | ||
| ENST00000687823.1:n.286C>G | ||
| ENST00000689932.1:n.2435C>G | ||
| ENST00000691297.1:n.505C>G | ||
| ENST00000691527.1:n.1175C>G | ||
| ENST00000692792.1:n.491C>G | ||
| ENST00000361804.5:c.372C>G MANE Select | ENSP00000354720.5:p.Leu124= | |
| ENST00000361804.4:c.372C>G | ENSP00000354720.4:p.Leu124= | |
| ENST00000462899.1:n.518C>G | ||
| NM_005445.3:c.372C>G , LRG_774t1:c.372C>G | NP_005436.1:p.Leu124= | |
| NM_005445.4:c.372C>G MANE Select | NP_005436.1:p.Leu124= |