Linked Data
ClinVar Variation Id:
1466478
ClinVar RCV Id:
RCV001979625
dbSNP Id:
rs1281055540
gnomAD v4:
14-24081273-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24081273C>A , CM000676.2:g.24081273C>A | GRCh38 |
| NC_000014.8:g.24550482C>A , CM000676.1:g.24550482C>A | GRCh37 |
| NC_000014.7:g.23620322C>A | NCBI36 |
| NG_011697.1:g.8351G>T | |
| NG_011697.2:g.38742G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.677G>T MANE Select | ENSP00000454062.2:p.Gly226Val | |
| ENST00000396995.1:c.260G>T | ENSP00000380191.1:p.Gly87Val | |
| ENST00000396997.1:c.677G>T | ENSP00000380193.1:p.Gly226Val | |
| ENST00000397002.6:c.677G>T | ENSP00000380197.2:p.Gly226Val | |
| ENST00000560550.1:c.260G>T | ENSP00000452966.1:p.Gly87Val | |
| ENST00000561028.5:c.677G>T | ENSP00000454062.1:p.Gly226Val | |
| NM_006177.3:c.677G>T | NP_006168.1:p.Gly226Val | |
| XM_005267708.3:c.677G>T | XP_005267765.1:p.Gly226Val | |
| XM_005267709.3:c.677G>T | XP_005267766.1:p.Gly226Val | |
| XM_005267710.3:c.677G>T | XP_005267767.1:p.Gly226Val | |
| XM_011536801.1:c.776G>T | XP_011535103.1:p.Gly259Val | |
| XM_011536802.1:c.677G>T | XP_011535104.1:p.Gly226Val | |
| XM_011536803.1:c.677G>T | XP_011535105.1:p.Gly226Val | |
| XM_011536804.1:c.677G>T | XP_011535106.1:p.Gly226Val | |
| XM_011536805.1:c.677G>T | XP_011535107.1:p.Gly226Val | |
| XM_011536806.1:c.461G>T | XP_011535108.1:p.Gly154Val | |
| NM_001354768.1:c.677G>T | NP_001341697.1:p.Gly226Val | |
| NM_001354769.1:c.677G>T | NP_001341698.1:p.Gly226Val | |
| NM_001354770.1:c.362G>T | NP_001341699.1:p.Gly121Val | |
| NM_006177.4:c.677G>T | NP_006168.1:p.Gly226Val | |
| XM_011536801.2:c.983G>T | XP_011535103.2:p.Gly328Val | |
| XM_011536804.2:c.677G>T | XP_011535106.1:p.Gly226Val | |
| XM_011536805.2:c.677G>T | XP_011535107.1:p.Gly226Val | |
| XM_011536806.2:c.668G>T | XP_011535108.2:p.Gly223Val | |
| NM_001354768.3:c.677G>T MANE Select | NP_001341697.1:p.Gly226Val | |
| NM_001354770.2:c.362G>T | NP_001341699.1:p.Gly121Val | |
| NM_006177.5:c.677G>T | NP_006168.1:p.Gly226Val |