Linked Data
ClinVar Variation Id:
191312
dbSNP Id:
rs2229813
ExAC:
2:227892720 C / T
gnomAD v2:
2-227892720-C-T
gnomAD v3:
2-227028004-C-T
gnomAD v4:
2-227028004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227028004C>T , CM000664.2:g.227028004C>T | GRCh38 |
| NC_000002.11:g.227892720C>T , CM000664.1:g.227892720C>T | GRCh37 |
| NC_000002.10:g.227600964C>T | NCBI36 |
| NG_011592.1:g.141556G>A , LRG_231:g.141556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396625.5:c.3979G>A MANE Select | ENSP00000379866.3:p.Val1327Met | |
| ENST00000396625.3:c.3979G>A | ENSP00000379866.3:p.Val1327Met | |
| NM_000092.4:c.3979G>A , LRG_231t1:c.3979G>A | NP_000083.3:p.Val1327Met | |
| XM_005246281.2:c.3979G>A | XP_005246338.1:p.Val1327Met | |
| XM_005246282.2:c.3424G>A | XP_005246339.1:p.Val1142Met | |
| XM_006712246.2:c.3979G>A | XP_006712309.1:p.Val1327Met | |
| XM_006712249.2:c.3979G>A | XP_006712312.1:p.Val1327Met | |
| XM_006712251.2:c.3979G>A | XP_006712314.1:p.Val1327Met | |
| XM_006712252.2:c.3979G>A | XP_006712315.1:p.Val1327Met | |
| XM_011510557.1:c.3898G>A | XP_011508859.1:p.Val1300Met | |
| XM_011510558.1:c.3871G>A | XP_011508860.1:p.Val1291Met | |
| XM_011510559.1:c.3979G>A | XP_011508861.1:p.Val1327Met | |
| XM_011510560.1:c.3979G>A | XP_011508862.1:p.Val1327Met | |
| XM_011510561.1:c.3979G>A | XP_011508863.1:p.Val1327Met | |
| XM_011510562.1:c.3979G>A | XP_011508864.1:p.Val1327Met | |
| XM_011510563.1:c.3979G>A | XP_011508865.1:p.Val1327Met | |
| XM_011510564.1:c.3979G>A | XP_011508866.1:p.Val1327Met | |
| XM_011510565.1:c.3979G>A | XP_011508867.1:p.Val1327Met | |
| XM_011510566.1:c.3979G>A | XP_011508868.1:p.Val1327Met | |
| XM_011510567.1:c.3979G>A | XP_011508869.1:p.Val1327Met | |
| XM_011510568.1:c.3979G>A | XP_011508870.1:p.Val1327Met | |
| XM_011510569.1:c.3979G>A | XP_011508871.1:p.Val1327Met | |
| XM_011510570.1:c.3979G>A | XP_011508872.1:p.Val1327Met | |
| XM_011510571.1:c.3979G>A | XP_011508873.1:p.Val1327Met | |
| XM_011510572.1:c.2305G>A | XP_011508874.1:p.Val769Met | |
| XR_922837.1:n.4289G>A | ||
| XR_922838.1:n.4289G>A | ||
| XR_922839.1:n.4289G>A | ||
| XR_922840.1:n.4289G>A | ||
| XM_005246281.3:c.3979G>A | XP_005246338.1:p.Val1327Met | |
| XM_005246282.3:c.3424G>A | XP_005246339.1:p.Val1142Met | |
| XM_006712246.3:c.3979G>A | XP_006712309.1:p.Val1327Met | |
| XM_011510557.2:c.3898G>A | XP_011508859.1:p.Val1300Met | |
| XM_011510558.2:c.3871G>A | XP_011508860.1:p.Val1291Met | |
| XM_011510559.2:c.3979G>A | XP_011508861.1:p.Val1327Met | |
| XM_011510560.2:c.3979G>A | XP_011508862.1:p.Val1327Met | |
| XM_011510561.2:c.3979G>A | XP_011508863.1:p.Val1327Met | |
| XM_011510562.2:c.3979G>A | XP_011508864.1:p.Val1327Met | |
| XM_011510565.2:c.3979G>A | XP_011508867.1:p.Val1327Met | |
| XM_011510566.2:c.3979G>A | XP_011508868.1:p.Val1327Met | |
| XM_011510567.2:c.3979G>A | XP_011508869.1:p.Val1327Met | |
| XM_011510568.2:c.3979G>A | XP_011508870.1:p.Val1327Met | |
| XM_011510569.2:c.3979G>A | XP_011508871.1:p.Val1327Met | |
| XM_011510570.2:c.3979G>A | XP_011508872.1:p.Val1327Met | |
| XM_011510572.3:c.2305G>A | XP_011508874.1:p.Val769Met | |
| XM_017003296.1:c.3979G>A | XP_016858785.1:p.Val1327Met | |
| XM_017003297.1:c.3862G>A | XP_016858786.1:p.Val1288Met | |
| XM_017003298.1:c.3979G>A | XP_016858787.1:p.Val1327Met | |
| XM_017003299.1:c.3979G>A | XP_016858788.1:p.Val1327Met | |
| XM_017003300.1:c.3979G>A | XP_016858789.1:p.Val1327Met | |
| XR_001738602.1:n.4305G>A | ||
| XR_001738603.1:n.4305G>A | ||
| XR_001738604.1:n.4305G>A | ||
| XR_001738606.1:n.4305G>A | ||
| XR_001738607.1:n.4305G>A | ||
| XR_922837.2:n.4305G>A | ||
| NM_000092.5:c.3979G>A MANE Select | NP_000083.3:p.Val1327Met |