Linked Data
ClinVar Variation Id:
838022
ClinVar RCV Id:
RCV001039485
dbSNP Id:
rs1763800127
gnomAD v4:
5-90823558-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823558A>G , CM000667.2:g.90823558A>G | GRCh38 |
| NC_000005.9:g.90119375A>G , CM000667.1:g.90119375A>G | GRCh37 |
| NC_000005.8:g.90155131A>G | NCBI36 |
| NG_007083.1:g.269759A>G | |
| NG_007083.2:g.299215A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16330A>G MANE Select | ENSP00000384582.2:p.Thr5444Ala | |
| ENST00000425867.3:c.5284A>G | ENSP00000392618.3:p.Thr1762Ala | |
| ENST00000638510.1:n.3597A>G | ||
| ENST00000639431.1:c.265+147349A>G | ENSP00000491057.1:n.265+147349A>G | |
| ENST00000640061.1:n.128+1376A>G | ||
| ENST00000640407.1:c.2740A>G | ENSP00000491425.1:p.Thr914Ala | |
| ENST00000405460.6:c.16330A>G | ENSP00000384582.2:p.Thr5444Ala | |
| ENST00000425867.2:c.3313A>G | ENSP00000392618.2:p.Thr1105Ala | |
| NM_032119.3:c.16330A>G | NP_115495.3:p.Thr5444Ala | |
| NR_003149.1:n.16343A>G | ||
| XM_011543675.1:c.16327A>G | XP_011541977.1:p.Thr5443Ala | |
| XM_011543676.1:c.16249A>G | XP_011541978.1:p.Thr5417Ala | |
| XM_011543677.1:c.13633A>G | XP_011541979.1:p.Thr4545Ala | |
| NM_032119.4:c.16330A>G MANE Select | NP_115495.3:p.Thr5444Ala | |
| XM_017009963.2:c.16351A>G | XP_016865452.1:p.Thr5451Ala | |
| XM_017009964.2:c.16348A>G | XP_016865453.1:p.Thr5450Ala | |
| XM_017009965.1:c.16348A>G | XP_016865454.1:p.Thr5450Ala | |
| XM_017009966.2:c.16270A>G | XP_016865455.1:p.Thr5424Ala | |
| XM_017009967.1:c.16255A>G | XP_016865456.1:p.Thr5419Ala | |
| XM_017009968.2:c.16171A>G | XP_016865457.1:p.Thr5391Ala | |
| XM_017009969.2:c.16351A>G | XP_016865458.1:p.Thr5451Ala | |
| XM_017009972.1:c.9469A>G | XP_016865461.1:p.Thr3157Ala | |
| XM_017009973.1:c.9448A>G | XP_016865462.1:p.Thr3150Ala | |
| NR_003149.2:n.16346A>G |