Linked Data
ClinVar Variation Id:
332863
ClinVar RCV Id:
RCV000262626
RCV000268335
RCV000320230
RCV000360752
RCV000355134
RCV000457525
RCV001798788
RCV002402057
RCV003137954
dbSNP Id:
rs781392140
ExAC:
2:179486595 C / T
gnomAD v2:
2-179486595-C-T
gnomAD v3:
2-178621868-C-T
gnomAD v4:
2-178621868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621868C>T , CM000664.2:g.178621868C>T | GRCh38 |
| NC_000002.11:g.179486595C>T , CM000664.1:g.179486595C>T | GRCh37 |
| NC_000002.10:g.179194840C>T | NCBI36 |
| NG_011618.3:g.213935G>A , LRG_391:g.213935G>A | |
| NG_051363.1:g.104042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37350G>A | ENSP00000343764.6:p.Ala12450= | |
| ENST00000342175.11:c.18435G>A | ENSP00000340554.6:p.Ala6145= | |
| ENST00000359218.10:c.18234G>A | ENSP00000352154.5:p.Ala6078= | |
| ENST00000342175.10:c.18435G>A | ENSP00000340554.6:p.Ala6145= | |
| ENST00000342992.10:c.37350G>A | ENSP00000343764.6:p.Ala12450= | |
| ENST00000359218.9:c.18234G>A | ENSP00000352154.5:p.Ala6078= | |
| ENST00000460472.6:c.17859G>A | ENSP00000434586.1:p.Ala5953= | |
| ENST00000589042.5:c.45054G>A MANE Select | ENSP00000467141.1:p.Ala15018= | |
| ENST00000591111.5:c.40131G>A | ENSP00000465570.1:p.Ala13377= | |
| ENST00000615779.4:c.40131G>A | ENSP00000483597.1:p.Ala13377= | |
| NM_001256850.1:c.40131G>A | NP_001243779.1:p.Ala13377= | |
| NM_001267550.2:c.45054G>A MANE Select | NP_001254479.2:p.Ala15018= | |
| NM_003319.4:c.17859G>A | NP_003310.4:p.Ala5953= | |
| NM_133378.4:c.37350G>A | NP_596869.4:p.Ala12450= | |
| NM_133432.3:c.18234G>A | NP_597676.3:p.Ala6078= | |
| NM_133437.4:c.18435G>A | NP_597681.4:p.Ala6145= | |
| XM_011511729.1:c.44151G>A | XP_011510031.1:p.Ala14717= | |
| XM_011511730.1:c.18045G>A | XP_011510032.1:p.Ala6015= | |
| XM_011511731.1:c.17904G>A | XP_011510033.1:p.Ala5968= | |
| XM_017004819.1:c.43947G>A | XP_016860308.1:p.Ala14649= | |
| XM_017004820.1:c.39345G>A | XP_016860309.1:p.Ala13115= | |
| XM_017004821.1:c.39342G>A | XP_016860310.1:p.Ala13114= | |
| XM_017004822.1:c.36384G>A | XP_016860311.1:p.Ala12128= | |
| XM_017004823.1:c.18000G>A | XP_016860312.1:p.Ala6000= | |
| XM_024453094.1:c.39495G>A | XP_024308862.1:p.Ala13165= | |
| XM_024453095.1:c.39492G>A | XP_024308863.1:p.Ala13164= | |
| XM_024453096.1:c.38925G>A | XP_024308864.1:p.Ala12975= | |
| XM_024453097.1:c.36267G>A | XP_024308865.1:p.Ala12089= | |
| XM_024453098.1:c.36186G>A | XP_024308866.1:p.Ala12062= | |
| XM_024453099.1:c.17949G>A | XP_024308867.1:p.Ala5983= | |
| XM_024453100.1:c.7803G>A | XP_024308868.1:p.Ala2601= |