Linked Data
ClinVar Variation Id:
41606
dbSNP Id:
rs202052259
ExAC:
4:55570043 A / G
gnomAD v2:
4-55570043-A-G
gnomAD v3:
4-54703877-A-G
gnomAD v4:
4-54703877-A-G
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54703877A>G , CM000666.2:g.54703877A>G | GRCh38 |
| NC_000004.11:g.55570043A>G , CM000666.1:g.55570043A>G | GRCh37 |
| NC_000004.10:g.55264800A>G | NCBI36 |
| NG_007456.1:g.50883A>G , LRG_307:g.50883A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.913A>G | ENSP00000390987.3:p.Thr305Ala | |
| ENST00000685269.1:n.988A>G | ||
| ENST00000685816.1:c.154A>G | ENSP00000508749.1:p.Thr52Ala | |
| ENST00000686011.1:c.910A>G | ENSP00000509704.1:p.Thr304Ala | |
| ENST00000687109.1:c.913A>G | ENSP00000509371.1:p.Thr305Ala | |
| ENST00000687208.1:n.1325A>G | ||
| ENST00000687246.1:c.910A>G | ENSP00000509114.1:p.Thr304Ala | |
| ENST00000687265.1:n.1080A>G | ||
| ENST00000687295.1:c.910A>G | ENSP00000509450.1:p.Thr304Ala | |
| ENST00000689832.1:c.913A>G | ENSP00000509084.1:p.Thr305Ala | |
| ENST00000689994.1:c.400A>G | ENSP00000509156.1:p.Thr134Ala | |
| ENST00000690519.1:c.910A>G | ENSP00000508845.1:p.Thr304Ala | |
| ENST00000690543.1:c.913A>G | ENSP00000508831.1:p.Thr305Ala | |
| ENST00000690917.1:n.1128A>G | ||
| ENST00000692783.1:c.910A>G | ENSP00000508733.1:p.Thr304Ala | |
| ENST00000692991.1:n.1019A>G | ||
| ENST00000288135.6:c.910A>G MANE Select | ENSP00000288135.6:p.Thr304Ala | |
| ENST00000288135.5:c.910A>G | ENSP00000288135.5:p.Thr304Ala | |
| ENST00000412167.6:c.910A>G | ENSP00000390987.2:p.Thr304Ala | |
| NM_000222.2:c.910A>G , LRG_307t1:c.910A>G | NP_000213.1:p.Thr304Ala | |
| NM_001093772.1:c.910A>G | NP_001087241.1:p.Thr304Ala | |
| XM_005265740.1:c.913A>G | XP_005265797.1:p.Thr305Ala | |
| XM_005265741.1:c.913A>G | XP_005265798.1:p.Thr305Ala | |
| XM_005265742.1:c.913A>G | XP_005265799.1:p.Thr305Ala | |
| XM_005265742.3:c.913A>G | XP_005265799.1:p.Thr305Ala | |
| XM_017008178.1:c.910A>G | XP_016863667.1:p.Thr304Ala | |
| XM_017008179.1:c.913A>G | XP_016863668.1:p.Thr305Ala | |
| XM_017008180.1:c.910A>G | XP_016863669.1:p.Thr304Ala | |
| NM_000222.3:c.910A>G MANE Select | NP_000213.1:p.Thr304Ala | |
| NM_001093772.2:c.910A>G | NP_001087241.1:p.Thr304Ala | |
| NM_001385284.1:c.913A>G | NP_001372213.1:p.Thr305Ala | |
| NM_001385285.1:c.910A>G | NP_001372214.1:p.Thr304Ala | |
| NM_001385286.1:c.910A>G | NP_001372215.1:p.Thr304Ala | |
| NM_001385288.1:c.913A>G | NP_001372217.1:p.Thr305Ala | |
| NM_001385290.1:c.913A>G | NP_001372219.1:p.Thr305Ala | |
| NM_001385292.1:c.913A>G | NP_001372221.1:p.Thr305Ala |