Linked Data
ClinVar Variation Id:
234309
dbSNP Id:
rs150999369
ExAC:
19:10283803 C / T
gnomAD v2:
19-10283803-C-T
gnomAD v3:
19-10173127-C-T
gnomAD v4:
19-10173127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10173127C>T , CM000681.2:g.10173127C>T | GRCh38 |
| NC_000019.9:g.10283803C>T , CM000681.1:g.10283803C>T | GRCh37 |
| NC_000019.8:g.10144803C>T | NCBI36 |
| NG_028016.3:g.63160G>A , LRG_362:g.63160G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359526.9:c.731G>A MANE Select | ENSP00000352516.3:p.Gly244Glu | |
| ENST00000676604.1:n.337G>A | ||
| ENST00000676610.1:c.683G>A | ENSP00000504236.1:p.Gly228Glu | |
| ENST00000676820.1:n.739G>A | ||
| ENST00000677013.1:c.*373G>A | ENSP00000503135.1:n.*373G>A | |
| ENST00000677250.1:c.683G>A | ENSP00000502894.1:p.Gly228Glu | |
| ENST00000677616.1:c.368G>A | ENSP00000503055.1:p.Gly123Glu | |
| ENST00000677634.1:c.683G>A | ENSP00000504246.1:p.Gly228Glu | |
| ENST00000677685.1:c.463G>A | ENSP00000503407.1:p.Glu155Lys | |
| ENST00000677946.1:c.683G>A | ENSP00000504202.1:p.Gly228Glu | |
| ENST00000678024.1:n.820G>A | ||
| ENST00000678804.1:c.683G>A | ENSP00000503853.1:p.Gly228Glu | |
| ENST00000679103.1:c.683G>A | ENSP00000503151.1:p.Gly228Glu | |
| ENST00000679313.1:c.683G>A | ENSP00000504512.1:p.Gly228Glu | |
| ENST00000340748.8:c.683G>A | ENSP00000345739.3:p.Gly228Glu | |
| ENST00000359526.8:c.731G>A | ENSP00000352516.3:p.Gly244Glu | |
| ENST00000540357.5:c.-326G>A | ENSP00000440457.2:n.-326G>A | |
| ENST00000586988.5:c.*511G>A | ENSP00000464958.1:n.*511G>A | |
| ENST00000588952.5:c.320G>A | ENSP00000467050.1:p.Gly107Glu | |
| ENST00000592705.5:c.*421G>A | ENSP00000466657.1:n.*421G>A | |
| NM_001130823.1:c.731G>A , LRG_362t1:c.731G>A | NP_001124295.1:p.Gly244Glu | |
| NM_001379.2:c.683G>A | NP_001370.1:p.Gly228Glu | |
| XM_011527772.1:c.731G>A | XP_011526074.1:p.Gly244Glu | |
| XM_011527773.1:c.683G>A | XP_011526075.1:p.Gly228Glu | |
| XM_011527774.1:c.320G>A | XP_011526076.1:p.Gly107Glu | |
| NM_001130823.2:c.731G>A | NP_001124295.1:p.Gly244Glu | |
| NM_001318730.1:c.683G>A | NP_001305659.1:p.Gly228Glu | |
| NM_001318731.1:c.368G>A | NP_001305660.1:p.Gly123Glu | |
| NM_001379.3:c.683G>A | NP_001370.1:p.Gly228Glu | |
| NM_001130823.3:c.731G>A MANE Select | NP_001124295.1:p.Gly244Glu | |
| NM_001318730.2:c.683G>A | NP_001305659.1:p.Gly228Glu | |
| NM_001318731.2:c.368G>A | NP_001305660.1:p.Gly123Glu | |
| NM_001379.4:c.683G>A | NP_001370.1:p.Gly228Glu |