Linked Data
ClinVar Variation Id:
282496
dbSNP Id:
rs140903276
ExAC:
11:22257740 G / C
gnomAD v2:
11-22257740-G-C
gnomAD v3:
11-22236194-G-C
gnomAD v4:
11-22236194-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22236194G>C , CM000673.2:g.22236194G>C | GRCh38 |
| NC_000011.9:g.22257740G>C , CM000673.1:g.22257740G>C | GRCh37 |
| NC_000011.8:g.22214316G>C | NCBI36 |
| NG_015844.1:g.48019G>C , LRG_868:g.48019G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.230G>C | ENSP00000507766.1:p.Gly77Ala | |
| ENST00000682341.1:c.638G>C | ENSP00000508251.1:p.Gly213Ala | |
| ENST00000682530.1:c.*612G>C | ENSP00000506805.1:n.*612G>C | |
| ENST00000682684.1:n.1059G>C | ||
| ENST00000683197.1:c.638G>C | ENSP00000507641.1:p.Gly213Ala | |
| ENST00000683411.1:c.230G>C | ENSP00000508397.1:p.Gly77Ala | |
| ENST00000683437.1:c.230G>C | ENSP00000508408.1:p.Gly77Ala | |
| ENST00000683613.1:n.1674G>C | ||
| ENST00000683834.1:n.880G>C | ||
| ENST00000684663.1:c.635G>C | ENSP00000508009.1:p.Gly212Ala | |
| ENST00000324559.9:c.680G>C MANE Select | ENSP00000315371.9:p.Gly227Ala | |
| ENST00000648804.1:n.1213+8608G>C | ||
| ENST00000324559.8:c.680G>C | ENSP00000315371.8:p.Gly227Ala | |
| NM_001142649.1:c.677G>C | NP_001136121.1:p.Gly226Ala | |
| NM_213599.2:c.680G>C , LRG_868t1:c.680G>C | NP_998764.1:p.Gly227Ala | |
| XM_005252820.2:c.638G>C | XP_005252877.2:p.Gly213Ala | |
| XM_005252821.2:c.635G>C | XP_005252878.2:p.Gly212Ala | |
| XM_005252822.3:c.602G>C | XP_005252879.1:p.Gly201Ala | |
| XM_005252823.3:c.599G>C | XP_005252880.1:p.Gly200Ala | |
| XM_011519949.1:c.587G>C | XP_011518251.1:p.Gly196Ala | |
| XM_005252820.3:c.638G>C | XP_005252877.2:p.Gly213Ala | |
| XM_005252821.3:c.635G>C | XP_005252878.2:p.Gly212Ala | |
| XM_005252822.4:c.602G>C | XP_005252879.1:p.Gly201Ala | |
| XM_011519949.2:c.587G>C | XP_011518251.1:p.Gly196Ala | |
| NM_001142649.2:c.677G>C | NP_001136121.1:p.Gly226Ala | |
| NM_213599.3:c.680G>C MANE Select | NP_998764.1:p.Gly227Ala |