Linked Data
ClinVar Variation Id:
497130
ClinVar RCV Id:
RCV000597324
RCV001134848
RCV001134849
RCV001134850
RCV001134851
RCV001134852
RCV002061997
dbSNP Id:
rs548399416
ExAC:
2:179542520 C / T
gnomAD v4:
2-178677793-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178677793C>T , CM000664.2:g.178677793C>T | GRCh38 |
| NC_000002.11:g.179542520C>T , CM000664.1:g.179542520C>T | GRCh37 |
| NC_000002.10:g.179250765C>T | NCBI36 |
| NG_011618.3:g.158010G>A , LRG_391:g.158010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.30387G>A | ENSP00000343764.6:p.Glu10129= | |
| ENST00000342175.11:c.13859-35476G>A | ENSP00000340554.6:n.13859-35476G>A | |
| ENST00000359218.10:c.13658-35476G>A | ENSP00000352154.5:n.13658-35476G>A | |
| ENST00000342175.10:c.13859-35476G>A | ENSP00000340554.6:n.13859-35476G>A | |
| ENST00000342992.10:c.30387G>A | ENSP00000343764.6:p.Glu10129= | |
| ENST00000359218.9:c.13658-35476G>A | ENSP00000352154.5:n.13658-35476G>A | |
| ENST00000414766.5:c.2266+332G>A | ENSP00000401501.1:n.2266+332G>A | |
| ENST00000460472.6:c.13283-35476G>A | ENSP00000434586.1:n.13283-35476G>A | |
| ENST00000589042.5:c.34119G>A MANE Select | ENSP00000467141.1:p.Glu11373= | |
| ENST00000591111.5:c.33168G>A | ENSP00000465570.1:p.Glu11056= | |
| ENST00000615779.4:c.33168G>A | ENSP00000483597.1:p.Glu11056= | |
| NM_001256850.1:c.33168G>A | NP_001243779.1:p.Glu11056= | |
| NM_001267550.2:c.34119G>A MANE Select | NP_001254479.2:p.Glu11373= | |
| NM_003319.4:c.13283-35476G>A | NP_003310.4:n.13283-35476G>A | |
| NM_133378.4:c.30387G>A | NP_596869.4:p.Glu10129= | |
| NM_133432.3:c.13658-35476G>A | NP_597676.3:n.13658-35476G>A | |
| NM_133437.4:c.13859-35476G>A | NP_597681.4:n.13859-35476G>A | |
| XM_011511729.1:c.33216G>A | XP_011510031.1:p.Glu11072= | |
| XM_011511730.1:c.13469-35476G>A | XP_011510032.1:n.13469-35476G>A | |
| XM_011511731.1:c.13328-35476G>A | XP_011510033.1:n.13328-35476G>A | |
| XM_017004819.1:c.33171G>A | XP_016860308.1:p.Glu11057= | |
| XM_017004820.1:c.30390G>A | XP_016860309.1:p.Glu10130= | |
| XM_017004821.1:c.30387G>A | XP_016860310.1:p.Glu10129= | |
| XM_017004822.1:c.31684+332G>A | XP_016860311.1:n.31684+332G>A | |
| XM_017004823.1:c.13424-35476G>A | XP_016860312.1:n.13424-35476G>A | |
| XM_024453094.1:c.33046+332G>A | XP_024308862.1:n.33046+332G>A | |
| XM_024453095.1:c.33046+332G>A | XP_024308863.1:n.33046+332G>A | |
| XM_024453096.1:c.32476+332G>A | XP_024308864.1:n.32476+332G>A | |
| XM_024453097.1:c.31516+332G>A | XP_024308865.1:n.31516+332G>A | |
| XM_024453098.1:c.31435+332G>A | XP_024308866.1:n.31435+332G>A | |
| XM_024453099.1:c.13424-35476G>A | XP_024308867.1:n.13424-35476G>A |