Linked Data
dbSNP Id:
rs757252082
ExAC:
2:242707220 C / G
gnomAD v2:
2-242707220-C-G
gnomAD v4:
2-241767805-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767805C>G , CM000664.2:g.241767805C>G | GRCh38 |
| NC_000002.11:g.242707220C>G , CM000664.1:g.242707220C>G | GRCh37 |
| NC_000002.10:g.242355893C>G | NCBI36 |
| NG_012012.1:g.38191C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1402C>G MANE Select | ENSP00000315351.4:p.Gln468Glu | |
| ENST00000321264.8:c.1402C>G | ENSP00000315351.4:p.Gln468Glu | |
| ENST00000400769.6:c.*152C>G | ENSP00000383580.2:n.*152C>G | |
| ENST00000403782.5:c.1000C>G | ENSP00000384723.1:p.Gln334Glu | |
| ENST00000436747.5:c.*2638C>G | ENSP00000400212.1:n.*2638C>G | |
| ENST00000445308.1:c.798C>G | ||
| ENST00000468064.5:n.1292C>G | ||
| ENST00000470343.5:n.883C>G | ||
| ENST00000473126.1:n.601C>G | ||
| ENST00000486953.5:n.1226C>G | ||
| ENST00000610344.1:c.*246C>G | ENSP00000481906.1:n.*246C>G | |
| NM_001287249.1:c.1000C>G | NP_001274178.1:p.Gln334Glu | |
| NM_152783.4:c.1402C>G | NP_689996.4:p.Gln468Glu | |
| NR_109778.1:n.1324C>G | ||
| XM_011511734.1:c.1522C>G | XP_011510036.1:p.Gln508Glu | |
| XM_011511735.1:c.1480C>G | XP_011510037.1:p.Gln494Glu | |
| XM_011511736.1:c.1444C>G | XP_011510038.1:p.Gln482Glu | |
| XM_011511750.1:c.*69C>G | XP_011510052.1:n.*69C>G | |
| XM_011511754.1:c.961C>G | XP_011510056.1:p.Gln321Glu | |
| XM_011511755.1:c.952C>G | XP_011510057.1:p.Gln318Glu | |
| XM_011511756.1:c.949C>G | XP_011510058.1:p.Gln317Glu | |
| XR_923004.1:n.2034C>G | ||
| XR_923007.1:n.1744C>G | ||
| XR_923011.1:n.1845C>G | ||
| NM_001352824.1:c.841C>G | NP_001339753.1:p.Gln281Glu | |
| XM_011511734.2:c.1522C>G | XP_011510036.1:p.Gln508Glu | |
| XM_011511735.2:c.1480C>G | XP_011510037.1:p.Gln494Glu | |
| XM_011511736.2:c.1444C>G | XP_011510038.1:p.Gln482Glu | |
| XM_011511750.3:c.*69C>G | XP_011510052.1:n.*69C>G | |
| XM_011511756.2:c.949C>G | XP_011510058.1:p.Gln317Glu | |
| XM_024453102.1:c.1294C>G | XP_024308870.1:p.Gln432Glu | |
| XR_001738918.2:n.1776C>G | ||
| XR_001738919.2:n.1710C>G | ||
| XR_923004.3:n.2033C>G | ||
| XR_923007.3:n.1743C>G | ||
| XR_923011.3:n.1844C>G | ||
| NM_152783.5:c.1402C>G MANE Select | NP_689996.4:p.Gln468Glu | |
| NM_001287249.2:c.1000C>G | NP_001274178.1:p.Gln334Glu | |
| NM_001352824.2:c.841C>G | NP_001339753.1:p.Gln281Glu | |
| NR_109778.2:n.1273C>G |