Linked Data
ClinVar Variation Id:
89013
ClinVar RCV Id:
RCV000074496
dbSNP Id:
rs483352921
PubMed:
PMID:24207120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38894945G>C , CM000665.2:g.38894945G>C | GRCh38 |
| NC_000003.11:g.38936436G>C , CM000665.1:g.38936436G>C | GRCh37 |
| NC_000003.10:g.38911440G>C | NCBI36 |
| NG_033859.1:g.60617C>G | |
| NG_033859.2:g.162042C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302328.9:c.2423C>G MANE Select | ENSP00000307599.3:p.Ala808Gly | |
| ENST00000668754.1:c.2423C>G | ENSP00000499569.1:p.Ala808Gly | |
| ENST00000675223.1:c.2423C>G | ENSP00000502481.1:p.Ala808Gly | |
| ENST00000675672.1:c.2423C>G | ENSP00000502446.1:p.Ala808Gly | |
| ENST00000675892.1:c.2243C>G | ENSP00000502318.1:p.Ala748Gly | |
| ENST00000676045.1:c.2467C>G | ENSP00000501685.1:n.2467C>G | |
| ENST00000676176.1:c.2042C>G | ENSP00000501891.1:p.Ala681Gly | |
| ENST00000302328.7:c.2423C>G | ENSP00000307599.3:p.Ala808Gly | |
| ENST00000444237.2:c.2423C>G | ENSP00000408028.2:p.Ala808Gly | |
| ENST00000456224.7:c.2423C>G | ENSP00000416757.3:p.Ala808Gly | |
| NM_001287223.1:c.2423C>G | NP_001274152.1:p.Ala808Gly | |
| NM_014139.2:c.2423C>G | NP_054858.2:p.Ala808Gly | |
| XM_011533320.1:c.2423C>G | XP_011531622.1:p.Ala808Gly | |
| XM_011533321.1:c.1760C>G | XP_011531623.1:p.Ala587Gly | |
| XM_011533322.1:c.971C>G | XP_011531624.1:p.Ala324Gly | |
| NM_001349253.1:c.2423C>G | NP_001336182.1:p.Ala808Gly | |
| XM_011533321.2:c.1760C>G | XP_011531623.1:p.Ala587Gly | |
| XM_017005647.1:c.2798C>G | XP_016861136.1:p.Ala933Gly | |
| XM_017005648.1:c.2225C>G | XP_016861137.1:p.Ala742Gly | |
| XM_017005650.1:c.2423C>G | XP_016861139.1:p.Ala808Gly | |
| XM_017005651.1:c.2150C>G | XP_016861140.1:p.Ala717Gly | |
| XM_017005652.1:c.2423C>G | XP_016861141.1:p.Ala808Gly | |
| XM_017005653.1:c.827C>G | XP_016861142.1:p.Ala276Gly | |
| NM_001349253.2:c.2423C>G MANE Select | NP_001336182.1:p.Ala808Gly | |
| NM_014139.3:c.2423C>G | NP_054858.2:p.Ala808Gly |