Linked Data
ClinVar Variation Id:
1934182
ClinVar RCV Id:
RCV002631742
dbSNP Id:
rs758850158
ExAC:
19:10267169 C / T
gnomAD v2:
19-10267169-C-T
gnomAD v4:
19-10156493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10156493C>T , CM000681.2:g.10156493C>T | GRCh38 |
| NC_000019.9:g.10267169C>T , CM000681.1:g.10267169C>T | GRCh37 |
| NC_000019.8:g.10128169C>T | NCBI36 |
| NG_028016.3:g.79794G>A , LRG_362:g.79794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1297G>A MANE Select | ENSP00000352516.3:p.Gly433Ser | |
| ENST00000676604.1:n.909G>A | ||
| ENST00000676610.1:c.1249G>A | ENSP00000504236.1:p.Gly417Ser | |
| ENST00000676820.1:n.1305G>A | ||
| ENST00000676868.1:n.1933G>A | ||
| ENST00000677013.1:c.*939G>A | ENSP00000503135.1:n.*939G>A | |
| ENST00000677250.1:c.*369G>A | ENSP00000502894.1:n.*369G>A | |
| ENST00000677616.1:c.940G>A | ENSP00000503055.1:p.Gly314Ser | |
| ENST00000677634.1:c.1249G>A | ENSP00000504246.1:p.Gly417Ser | |
| ENST00000677685.1:c.*474G>A | ENSP00000503407.1:n.*474G>A | |
| ENST00000677783.1:n.1719G>A | ||
| ENST00000677946.1:c.1249G>A | ENSP00000504202.1:p.Gly417Ser | |
| ENST00000678024.1:n.1392G>A | ||
| ENST00000678694.1:n.570G>A | ||
| ENST00000678804.1:c.1249G>A | ENSP00000503853.1:p.Gly417Ser | |
| ENST00000679103.1:c.1249G>A | ENSP00000503151.1:p.Gly417Ser | |
| ENST00000679313.1:c.1249G>A | ENSP00000504512.1:p.Gly417Ser | |
| ENST00000340748.8:c.1249G>A | ENSP00000345739.3:p.Gly417Ser | |
| ENST00000359526.8:c.1297G>A | ENSP00000352516.3:p.Gly433Ser | |
| ENST00000540357.5:c.241G>A | ENSP00000440457.2:p.Gly81Ser | |
| ENST00000585843.1:n.454G>A | ||
| ENST00000592705.5:c.*987G>A | ENSP00000466657.1:n.*987G>A | |
| NM_001130823.1:c.1297G>A , LRG_362t1:c.1297G>A | NP_001124295.1:p.Gly433Ser | |
| NM_001379.2:c.1249G>A | NP_001370.1:p.Gly417Ser | |
| XM_011527772.1:c.1297G>A | XP_011526074.1:p.Gly433Ser | |
| XM_011527773.1:c.1249G>A | XP_011526075.1:p.Gly417Ser | |
| XM_011527774.1:c.886G>A | XP_011526076.1:p.Gly296Ser | |
| NM_001130823.2:c.1297G>A | NP_001124295.1:p.Gly433Ser | |
| NM_001318730.1:c.1249G>A | NP_001305659.1:p.Gly417Ser | |
| NM_001318731.1:c.934G>A | NP_001305660.1:p.Gly312Ser | |
| NM_001379.3:c.1249G>A | NP_001370.1:p.Gly417Ser | |
| NM_001130823.3:c.1297G>A MANE Select | NP_001124295.1:p.Gly433Ser | |
| NM_001318730.2:c.1249G>A | NP_001305659.1:p.Gly417Ser | |
| NM_001318731.2:c.934G>A | NP_001305660.1:p.Gly312Ser | |
| NM_001379.4:c.1249G>A | NP_001370.1:p.Gly417Ser |