Linked Data
ClinVar Variation Id:
1556313
ClinVar RCV Id:
RCV002187819
dbSNP Id:
rs2132565067
MyVariant Identifiers:
chr10:g.50701268G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493222G>A , CM000672.2:g.49493222G>A | GRCh38 |
| NC_000010.10:g.50701268G>A , CM000672.1:g.50701268G>A | GRCh37 |
| NC_000010.9:g.50371274G>A | NCBI36 |
| NG_009442.1:g.50880C>T , LRG_465:g.50880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1716C>T MANE Select | ENSP00000348089.5:p.Val572= | |
| ENST00000681632.1:n.1794C>T | ||
| ENST00000681659.1:c.1557C>T | ENSP00000505631.1:p.Val519= | |
| ENST00000355832.9:c.1716C>T | ENSP00000348089.5:p.Val572= | |
| ENST00000475116.1:n.275+7316C>T | ||
| ENST00000623073.3:c.117C>T | ENSP00000485650.1:p.Val39= | |
| ENST00000623115.3:c.-70+7316C>T | ENSP00000485321.1:n.-70+7316C>T | |
| ENST00000623318.1:c.117C>T | ENSP00000485423.1:p.Val39= | |
| NM_000124.3:c.1716C>T | NP_000115.1:p.Val572= | |
| NM_001346440.1:c.1716C>T | NP_001333369.1:p.Val572= | |
| NM_000124.4:c.1716C>T MANE Select | NP_000115.1:p.Val572= | |
| NM_001346440.2:c.1716C>T | NP_001333369.1:p.Val572= |