Linked Data
ClinVar Variation Id:
1486635
ClinVar RCV Id:
RCV002003743
dbSNP Id:
rs754124936
ExAC:
1:155264318 C / A
gnomAD v2:
1-155264318-C-A
gnomAD v4:
1-155294527-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294527C>A , CM000663.2:g.155294527C>A | GRCh38 |
| NC_000001.10:g.155264318C>A , CM000663.1:g.155264318C>A | GRCh37 |
| NC_000001.9:g.153530942C>A | NCBI36 |
| NG_011677.1:g.11908G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.920G>T MANE Select | ENSP00000339933.4:p.Gly307Val | |
| ENST00000342741.4:c.920G>T | ENSP00000339933.4:p.Gly307Val | |
| ENST00000392414.7:c.827G>T | ENSP00000376214.3:p.Gly276Val | |
| NM_000298.5:c.920G>T | NP_000289.1:p.Gly307Val | |
| NM_181871.3:c.827G>T | NP_870986.1:p.Gly276Val | |
| XM_005245266.3:c.1079G>T | XP_005245323.1:p.Gly360Val | |
| XM_006711386.2:c.728G>T | XP_006711449.1:p.Gly243Val | |
| XM_011509639.1:c.1079G>T | XP_011507941.1:p.Gly360Val | |
| XM_011509640.1:c.728G>T | XP_011507942.1:p.Gly243Val | |
| NM_000298.6:c.920G>T MANE Select | NP_000289.1:p.Gly307Val | |
| XM_006711386.4:c.728G>T | XP_006711449.1:p.Gly243Val | |
| XM_011509640.3:c.728G>T | XP_011507942.1:p.Gly243Val | |
| XM_017001493.1:c.920G>T | XP_016856982.1:p.Gly307Val | |
| NM_181871.4:c.827G>T | NP_870986.1:p.Gly276Val |