Linked Data
ClinVar Variation Id:
999954
ClinVar RCV Id:
RCV001296021
dbSNP Id:
rs2064672266
gnomAD v4:
3-38846804-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38846804G>C , CM000665.2:g.38846804G>C | GRCh38 |
| NC_000003.11:g.38888295G>C , CM000665.1:g.38888295G>C | GRCh37 |
| NC_000003.10:g.38863299G>C | NCBI36 |
| NG_033859.1:g.108758C>G | |
| NG_033859.2:g.210183C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5266C>G MANE Select | ENSP00000307599.3:p.Gln1756Glu | |
| ENST00000668754.1:c.5266C>G | ENSP00000499569.1:p.Gln1756Glu | |
| ENST00000675223.1:c.5345C>G | ENSP00000502481.1:n.5345C>G | |
| ENST00000675672.1:c.5320C>G | ENSP00000502446.1:n.5320C>G | |
| ENST00000675892.1:c.5086C>G | ENSP00000502318.1:p.Gln1696Glu | |
| ENST00000676045.1:c.5310C>G | ENSP00000501685.1:n.5310C>G | |
| ENST00000676176.1:c.4885C>G | ENSP00000501891.1:p.Gln1629Glu | |
| ENST00000302328.7:c.5266C>G | ENSP00000307599.3:p.Gln1756Glu | |
| ENST00000456224.7:c.5152C>G | ENSP00000416757.3:p.Gln1718Glu | |
| NM_001287223.1:c.5266C>G | NP_001274152.1:p.Gln1756Glu | |
| NM_014139.2:c.5266C>G | NP_054858.2:p.Gln1756Glu | |
| XM_011533320.1:c.5266C>G | XP_011531622.1:p.Gln1756Glu | |
| XM_011533321.1:c.4603C>G | XP_011531623.1:p.Gln1535Glu | |
| XM_011533322.1:c.3814C>G | XP_011531624.1:p.Gln1272Glu | |
| NM_001349253.1:c.5266C>G | NP_001336182.1:p.Gln1756Glu | |
| XM_011533321.2:c.4603C>G | XP_011531623.1:p.Gln1535Glu | |
| XM_017005647.1:c.5641C>G | XP_016861136.1:p.Gln1881Glu | |
| XM_017005648.1:c.5068C>G | XP_016861137.1:p.Gln1690Glu | |
| XM_017005650.1:c.5266C>G | XP_016861139.1:p.Gln1756Glu | |
| XM_017005651.1:c.4993C>G | XP_016861140.1:p.Gln1665Glu | |
| XM_017005653.1:c.3670C>G | XP_016861142.1:p.Gln1224Glu | |
| NM_001349253.2:c.5266C>G MANE Select | NP_001336182.1:p.Gln1756Glu | |
| NM_014139.3:c.5266C>G | NP_054858.2:p.Gln1756Glu |