Linked Data
ClinVar Variation Id:
6162
ClinVar RCV Id:
RCV000006537
dbSNP Id:
rs121908582
PubMed:
PMID:18203199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169493765A>G , CM000664.2:g.169493765A>G | GRCh38 |
| NC_000002.11:g.170350275A>G , CM000664.1:g.170350275A>G | GRCh37 |
| NC_000002.10:g.170058521A>G | NCBI36 |
| NG_011567.1:g.19270A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295240.8:c.547A>G MANE Select | ENSP00000295240.3:p.Thr183Ala | |
| ENST00000295240.7:c.547A>G | ENSP00000295240.3:p.Thr183Ala | |
| ENST00000392663.6:c.547A>G | ENSP00000376431.2:p.Thr183Ala | |
| ENST00000443151.1:c.*269A>G | ENSP00000406182.1:n.*269A>G | |
| ENST00000513963.1:c.547A>G | ENSP00000424363.1:p.Thr183Ala | |
| NM_152384.2:c.547A>G | NP_689597.1:p.Thr183Ala | |
| NM_152384.3:c.547A>G MANE Select | NP_689597.1:p.Thr183Ala |