Linked Data
ClinVar Variation Id:
425259
dbSNP Id:
rs539986030
ExAC:
2:238280420 C / G
gnomAD v2:
2-238280420-C-G
gnomAD v3:
2-237371777-C-G
gnomAD v4:
2-237371777-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237371777C>G , CM000664.2:g.237371777C>G | GRCh38 |
| NC_000002.11:g.238280420C>G , CM000664.1:g.238280420C>G | GRCh37 |
| NC_000002.10:g.237945159C>G | NCBI36 |
| NG_008676.1:g.47431G>C , LRG_473:g.47431G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.3622G>C | ENSP00000315873.4:p.Glu1208Gln | |
| ENST00000684597.1:c.71G>C | ||
| ENST00000295550.9:c.4240G>C MANE Select | ENSP00000295550.4:p.Glu1414Gln | |
| ENST00000295550.8:c.4240G>C | ENSP00000295550.4:p.Glu1414Gln | |
| ENST00000347401.7:c.2419G>C | ENSP00000315609.4:p.Glu807Gln | |
| ENST00000353578.8:c.3622G>C | ENSP00000315873.4:p.Glu1208Gln | |
| ENST00000392003.6:c.3019G>C | ENSP00000375860.2:p.Glu1007Gln | |
| ENST00000392004.7:c.3622G>C | ENSP00000375861.3:p.Glu1208Gln | |
| ENST00000409809.5:c.3622G>C | ENSP00000386844.1:p.Glu1208Gln | |
| ENST00000472056.5:c.2419G>C | ENSP00000418285.1:p.Glu807Gln | |
| NM_004369.3:c.4240G>C , LRG_473t1:c.4240G>C | NP_004360.2:p.Glu1414Gln | |
| NM_057164.4:c.3019G>C | NP_476505.3:p.Glu1007Gln | |
| NM_057165.4:c.3622G>C | NP_476506.3:p.Glu1208Gln | |
| NM_057166.4:c.2419G>C | NP_476507.3:p.Glu807Gln | |
| NM_057167.3:c.3622G>C | NP_476508.2:p.Glu1208Gln | |
| XM_005246065.1:c.3640G>C | XP_005246122.1:p.Glu1214Gln | |
| XM_005246066.1:c.3019G>C | XP_005246123.1:p.Glu1007Gln | |
| XM_006712253.1:c.4240G>C | XP_006712316.1:p.Glu1414Gln | |
| XM_011510574.1:c.4240G>C | XP_011508876.1:p.Glu1414Gln | |
| XM_011510575.1:c.1834G>C | XP_011508877.1:p.Glu612Gln | |
| XM_017003304.1:c.1834G>C | XP_016858793.1:p.Glu612Gln | |
| XM_024452684.1:c.3019G>C | XP_024308452.1:p.Glu1007Gln | |
| NM_004369.4:c.4240G>C MANE Select | NP_004360.2:p.Glu1414Gln | |
| NM_057164.5:c.3019G>C | NP_476505.3:p.Glu1007Gln | |
| NM_057165.5:c.3622G>C | NP_476506.3:p.Glu1208Gln | |
| NM_057166.5:c.2419G>C | NP_476507.3:p.Glu807Gln | |
| NM_057167.4:c.3622G>C | NP_476508.2:p.Glu1208Gln |