Linked Data
ClinVar Variation Id:
1537766
ClinVar RCV Id:
RCV002159503
dbSNP Id:
rs2136646476
MyVariant Identifiers:
chr12:g.103246721A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852943A>T , CM000674.2:g.102852943A>T | GRCh38 |
| NC_000012.11:g.103246721A>T , CM000674.1:g.103246721A>T | GRCh37 |
| NC_000012.10:g.101770851A>T | NCBI36 |
| NG_008690.1:g.69660T>A | |
| NG_008690.2:g.110468T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.714T>A MANE Select | ENSP00000448059.1:p.Thr238= | |
| ENST00000307000.7:c.699T>A | ENSP00000303500.2:p.Thr233= | |
| ENST00000549247.6:n.473T>A | ||
| ENST00000553106.5:c.714T>A | ENSP00000448059.1:p.Thr238= | |
| NM_000277.1:c.714T>A | NP_000268.1:p.Thr238= | |
| XM_011538422.1:c.714T>A | XP_011536724.1:p.Thr238= | |
| NM_000277.2:c.714T>A | NP_000268.1:p.Thr238= | |
| NM_001354304.1:c.714T>A | NP_001341233.1:p.Thr238= | |
| NM_000277.3:c.714T>A MANE Select | NP_000268.1:p.Thr238= | |
| NM_001354304.2:c.714T>A | NP_001341233.1:p.Thr238= |