Linked Data
ClinVar Variation Id:
1553077
ClinVar RCV Id:
RCV002187372
dbSNP Id:
rs2137144251
MyVariant Identifiers:
chr12:g.50344742G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950959G>A , CM000674.2:g.49950959G>A | GRCh38 |
| NC_000012.11:g.50344742G>A , CM000674.1:g.50344742G>A | GRCh37 |
| NC_000012.10:g.48631009G>A | NCBI36 |
| NG_008913.1:g.5219G>A , LRG_717:g.5219G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.129G>A MANE Select | ENSP00000199280.3:p.Gln43= | |
| ENST00000199280.3:c.129G>A | ENSP00000199280.3:p.Gln43= | |
| ENST00000550862.1:c.129G>A | ENSP00000450022.1:p.Gln43= | |
| ENST00000551526.5:c.129G>A | ENSP00000447148.1:p.Gln43= | |
| NM_000486.5:c.129G>A , LRG_717t1:c.129G>A | NP_000477.1:p.Gln43= | |
| NM_000486.6:c.129G>A MANE Select | NP_000477.1:p.Gln43= |