Linked Data
ClinVar Variation Id:
1632366
ClinVar RCV Id:
RCV002130416
dbSNP Id:
rs773199091
MyVariant Identifiers:
chr12:g.50344886T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951103T>C , CM000674.2:g.49951103T>C | GRCh38 |
| NC_000012.11:g.50344886T>C , CM000674.1:g.50344886T>C | GRCh37 |
| NC_000012.10:g.48631153T>C | NCBI36 |
| NG_008913.1:g.5363T>C , LRG_717:g.5363T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.273T>C MANE Select | ENSP00000199280.3:p.Ala91= | |
| ENST00000199280.3:c.273T>C | ENSP00000199280.3:p.Ala91= | |
| ENST00000550862.1:c.273T>C | ENSP00000450022.1:p.Ala91= | |
| ENST00000551526.5:c.273T>C | ENSP00000447148.1:p.Ala91= | |
| NM_000486.5:c.273T>C , LRG_717t1:c.273T>C | NP_000477.1:p.Ala91= | |
| NM_000486.6:c.273T>C MANE Select | NP_000477.1:p.Ala91= |