Linked Data
ClinVar Variation Id:
2028617
ClinVar RCV Id:
RCV002876227
MyVariant Identifiers:
chr10:g.112338398G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578640G>A , CM000672.2:g.110578640G>A | GRCh38 |
| NC_000010.10:g.112338398G>A , CM000672.1:g.112338398G>A | GRCh37 |
| NC_000010.9:g.112328388G>A | NCBI36 |
| NG_012217.1:g.15950G>A , LRG_774:g.15950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.496G>A | ||
| ENST00000687823.1:n.277G>A | ||
| ENST00000689932.1:n.2426G>A | ||
| ENST00000691297.1:n.496G>A | ||
| ENST00000691527.1:n.1166G>A | ||
| ENST00000692792.1:n.482G>A | ||
| ENST00000361804.5:c.363G>A MANE Select | ENSP00000354720.5:p.Val121= | |
| ENST00000361804.4:c.363G>A | ENSP00000354720.4:p.Val121= | |
| ENST00000462899.1:n.509G>A | ||
| NM_005445.3:c.363G>A , LRG_774t1:c.363G>A | NP_005436.1:p.Val121= | |
| NM_005445.4:c.363G>A MANE Select | NP_005436.1:p.Val121= |