Linked Data
ClinVar Variation Id:
2139926
ClinVar RCV Id:
RCV003070953
gnomAD v4:
10-110601662-A-G
MyVariant Identifiers:
chr10:g.112361420A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601662A>G , CM000672.2:g.110601662A>G | GRCh38 |
| NC_000010.10:g.112361420A>G , CM000672.1:g.112361420A>G | GRCh37 |
| NC_000010.9:g.112351410A>G | NCBI36 |
| NG_012217.1:g.38972A>G , LRG_774:g.38972A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.4903A>G | ||
| ENST00000685743.1:n.2378A>G | ||
| ENST00000686057.1:n.1021A>G | ||
| ENST00000689321.1:n.1633A>G | ||
| ENST00000689986.1:n.459A>G | ||
| ENST00000361804.5:c.2670A>G MANE Select | ENSP00000354720.5:p.Thr890= | |
| ENST00000361804.4:c.2670A>G | ENSP00000354720.4:p.Thr890= | |
| NM_005445.3:c.2670A>G , LRG_774t1:c.2670A>G | NP_005436.1:p.Thr890= | |
| NM_005445.4:c.2670A>G MANE Select | NP_005436.1:p.Thr890= |