Linked Data
ClinVar Variation Id:
9477
dbSNP Id:
rs104893616
gnomAD v4:
2-98396042-C-G
PubMed:
PMID:9662398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98396042C>G , CM000664.2:g.98396042C>G | GRCh38 |
| NC_000002.11:g.99012505C>G , CM000664.1:g.99012505C>G | GRCh37 |
| NC_000002.10:g.98378937C>G | NCBI36 |
| NG_009097.1:g.54888C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272602.7:c.872C>G MANE Select | ENSP00000272602.2:p.Thr291Arg | |
| ENST00000272602.6:c.872C>G | ENSP00000272602.2:p.Thr291Arg | |
| ENST00000393504.5:c.872C>G | ENSP00000377140.1:p.Thr291Arg | |
| ENST00000409937.1:c.884C>G | ENSP00000386761.1:p.Thr295Arg | |
| ENST00000436404.6:c.818C>G | ENSP00000410070.2:p.Thr273Arg | |
| NM_001079878.1:c.818C>G | NP_001073347.1:p.Thr273Arg | |
| NM_001298.2:c.872C>G | NP_001289.1:p.Thr291Arg | |
| XM_006712243.2:c.983C>G | XP_006712306.1:p.Thr328Arg | |
| XM_011510554.1:c.1037C>G | XP_011508856.1:p.Thr346Arg | |
| XM_011510554.2:c.1037C>G | XP_011508856.1:p.Thr346Arg | |
| NM_001079878.2:c.818C>G | NP_001073347.1:p.Thr273Arg | |
| NM_001298.3:c.872C>G MANE Select | NP_001289.1:p.Thr291Arg |