Linked Data
ClinVar Variation Id:
218359
dbSNP Id:
rs144288844
ExAC:
14:92403402 C / T
gnomAD v2:
14-92403402-C-T
gnomAD v3:
14-91937058-C-T
gnomAD v4:
14-91937058-C-T
PubMed:
PMID:21576112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91937058C>T , CM000676.2:g.91937058C>T | GRCh38 |
| NC_000014.8:g.92403402C>T , CM000676.1:g.92403402C>T | GRCh37 |
| NC_000014.7:g.91473155C>T | NCBI36 |
| NG_008254.1:g.15645G>A , LRG_364:g.15645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*234G>A | ENSP00000451002.1:n.*234G>A | |
| ENST00000557570.2:c.100G>A | ENSP00000450787.2:p.Gly34Ser | |
| ENST00000706676.1:c.442G>A | ENSP00000516492.1:p.Gly148Ser | |
| ENST00000706677.1:c.268G>A | ENSP00000516493.1:p.Gly90Ser | |
| ENST00000706679.1:c.100G>A | ENSP00000516494.1:p.Gly34Ser | |
| ENST00000706680.1:c.*234G>A | ENSP00000516495.1:n.*234G>A | |
| ENST00000706681.1:c.*118+74G>A | ENSP00000516496.1:n.*118+74G>A | |
| ENST00000342058.9:c.268G>A MANE Select | ENSP00000345008.4:p.Gly90Ser | |
| ENST00000267620.14:c.391G>A | ENSP00000267620.10:p.Gly131Ser | |
| ENST00000342058.8:c.268G>A | ENSP00000345008.4:p.Gly90Ser | |
| ENST00000554468.5:c.268G>A | ENSP00000451486.1:p.Gly90Ser | |
| ENST00000556154.5:c.283G>A | ENSP00000451982.1:p.Gly95Ser | |
| ENST00000557088.5:c.*234G>A | ENSP00000451002.1:n.*234G>A | |
| ENST00000557462.5:n.514G>A | ||
| NM_006329.3:c.268G>A , LRG_364t1:c.268G>A | NP_006320.2:p.Gly90Ser | |
| XM_005267267.3:c.319G>A | XP_005267324.1:p.Gly107Ser | |
| XM_011536356.1:c.319G>A | XP_011534658.1:p.Gly107Ser | |
| XM_011536357.1:c.268G>A | XP_011534659.1:p.Gly90Ser | |
| XM_011536358.1:c.100G>A | XP_011534660.1:p.Gly34Ser | |
| XM_011536357.2:c.268G>A | XP_011534659.1:p.Gly90Ser | |
| XM_011536358.2:c.100G>A | XP_011534660.1:p.Gly34Ser | |
| XM_017020929.2:c.100G>A | XP_016876418.1:p.Gly34Ser | |
| NM_001384158.1:c.391G>A | NP_001371087.1:p.Gly131Ser | |
| NM_001384159.1:c.319G>A | NP_001371088.1:p.Gly107Ser | |
| NM_001384160.1:c.268G>A | NP_001371089.1:p.Gly90Ser | |
| NM_001384161.1:c.100G>A | NP_001371090.1:p.Gly34Ser | |
| NM_001384162.1:c.100G>A | NP_001371091.1:p.Gly34Ser | |
| NM_006329.4:c.268G>A MANE Select | NP_006320.2:p.Gly90Ser |