Linked Data
ClinVar Variation Id:
1210350
ClinVar RCV Id:
RCV001580625
dbSNP Id:
rs2137144293
gnomAD v4:
12-49950985-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950985T>C , CM000674.2:g.49950985T>C | GRCh38 |
| NC_000012.11:g.50344768T>C , CM000674.1:g.50344768T>C | GRCh37 |
| NC_000012.10:g.48631035T>C | NCBI36 |
| NG_008913.1:g.5245T>C , LRG_717:g.5245T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.155T>C MANE Select | ENSP00000199280.3:p.Ile52Thr | |
| ENST00000199280.3:c.155T>C | ENSP00000199280.3:p.Ile52Thr | |
| ENST00000550862.1:c.155T>C | ENSP00000450022.1:p.Ile52Thr | |
| ENST00000551526.5:c.155T>C | ENSP00000447148.1:p.Ile52Thr | |
| NM_000486.5:c.155T>C , LRG_717t1:c.155T>C | NP_000477.1:p.Ile52Thr | |
| NM_000486.6:c.155T>C MANE Select | NP_000477.1:p.Ile52Thr |