Linked Data
ClinVar Variation Id:
8614
ClinVar RCV Id:
RCV000009145
dbSNP Id:
rs121909375
PubMed:
PMID:11815426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47351356T>C , CM000673.2:g.47351356T>C | GRCh38 |
| NC_000011.9:g.47372907T>C , CM000673.1:g.47372907T>C | GRCh37 |
| NC_000011.8:g.47329483T>C | NCBI36 |
| NG_007667.1:g.6347A>G , LRG_386:g.6347A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.175A>G MANE Select | ENSP00000442795.1:p.Thr59Ala | |
| ENST00000256993.8:c.175A>G | ENSP00000256993.5:p.Thr59Ala | |
| ENST00000399249.6:c.175A>G | ENSP00000382193.2:p.Thr59Ala | |
| ENST00000544791.1:c.175A>G | ENSP00000444259.1:p.Thr59Ala | |
| ENST00000545968.5:c.175A>G | ENSP00000442795.1:p.Thr59Ala | |
| NM_000256.3:c.175A>G , LRG_386t1:c.175A>G MANE Select | NP_000247.2:p.Thr59Ala | |
| XM_011520117.1:c.175A>G | XP_011518419.1:p.Thr59Ala | |
| XM_011520118.1:c.175A>G | XP_011518420.1:p.Thr59Ala |