Linked Data
ClinVar Variation Id:
201881
dbSNP Id:
rs146336815
ExAC:
10:69882040 A / G
gnomAD v2:
10-69882040-A-G
gnomAD v3:
10-68122283-A-G
gnomAD v4:
10-68122283-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68122283A>G , CM000672.2:g.68122283A>G | GRCh38 |
| NC_000010.10:g.69882040A>G , CM000672.1:g.69882040A>G | GRCh37 |
| NC_000010.9:g.69552046A>G | NCBI36 |
| NG_032118.1:g.21167A>G , LRG_410:g.21167A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354393.7:c.77+15482A>G | ENSP00000346369.2:n.77+15482A>G | |
| ENST00000373675.4:c.845A>G | ENSP00000362779.4:p.Glu282Gly | |
| ENST00000540630.6:c.845A>G | ENSP00000441668.3:p.Glu282Gly | |
| ENST00000613327.5:c.845A>G | ENSP00000480757.2:p.Glu282Gly | |
| ENST00000685006.1:c.917A>G | ENSP00000510318.1:p.Glu306Gly | |
| ENST00000685060.1:n.1082A>G | ||
| ENST00000685154.1:c.845A>G | ENSP00000509251.1:p.Glu282Gly | |
| ENST00000685627.1:c.*856A>G | ENSP00000508637.1:n.*856A>G | |
| ENST00000686289.1:n.113+16100A>G | ||
| ENST00000687572.1:c.-221+16100A>G | ENSP00000510427.1:n.-221+16100A>G | |
| ENST00000687705.1:c.*1094A>G | ENSP00000509639.1:n.*1094A>G | |
| ENST00000688812.1:c.845A>G | ENSP00000510658.1:p.Glu282Gly | |
| ENST00000689218.1:n.1074A>G | ||
| ENST00000689484.1:c.-220-20657A>G | ENSP00000509884.1:n.-220-20657A>G | |
| ENST00000689797.1:c.-220-20657A>G | ENSP00000510689.1:n.-220-20657A>G | |
| ENST00000690544.1:c.845A>G | ENSP00000508989.1:p.Glu282Gly | |
| ENST00000692038.1:c.*1094A>G | ENSP00000509220.1:n.*1094A>G | |
| ENST00000692953.1:n.62+16100A>G | ||
| ENST00000692979.1:c.845A>G | ENSP00000509849.1:p.Glu282Gly | |
| ENST00000358913.10:c.845A>G MANE Select | ENSP00000351790.5:p.Glu282Gly | |
| ENST00000354393.6:c.77+15482A>G | ENSP00000346369.2:n.77+15482A>G | |
| ENST00000358913.9:c.845A>G | ENSP00000351790.5:p.Glu282Gly | |
| ENST00000373675.3:c.845A>G | ENSP00000362779.3:p.Glu282Gly | |
| ENST00000540630.5:c.845A>G | ENSP00000441668.2:p.Glu282Gly | |
| ENST00000613327.4:c.-278A>G | ENSP00000480757.1:n.-278A>G | |
| NM_001256267.1:c.845A>G | NP_001243196.1:p.Glu282Gly | |
| NM_001256268.1:c.-278A>G | NP_001243197.1:n.-278A>G | |
| NM_032578.3:c.845A>G , LRG_410t1:c.845A>G | NP_115967.2:p.Glu282Gly | |
| NR_045662.3:n.329+15482A>G | ||
| NR_045663.3:n.1137A>G | ||
| XM_006718043.2:c.845A>G | XP_006718106.1:p.Glu282Gly | |
| XM_011540292.1:c.845A>G | XP_011538594.1:p.Glu282Gly | |
| XM_017016833.1:c.923A>G | XP_016872322.1:p.Glu308Gly | |
| XM_017016834.2:c.845A>G | XP_016872323.1:p.Glu282Gly | |
| XM_024448236.1:c.-221+16100A>G | XP_024304004.1:n.-221+16100A>G | |
| NR_045662.4:n.439+15482A>G | ||
| NR_045663.4:n.1082A>G | ||
| NM_001256267.2:c.845A>G | NP_001243196.1:p.Glu282Gly | |
| NM_001256268.2:c.-278A>G | NP_001243197.1:n.-278A>G | |
| NM_032578.4:c.845A>G MANE Select | NP_115967.2:p.Glu282Gly |