Linked Data
ClinVar Variation Id:
135017
dbSNP Id:
rs587778596
gnomAD v2:
4-55124981-A-T
gnomAD v3:
4-54258814-A-T
gnomAD v4:
4-54258814-A-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54258814A>T , CM000666.2:g.54258814A>T | GRCh38 |
| NC_000004.11:g.55124981A>T , CM000666.1:g.55124981A>T | GRCh37 |
| NC_000004.10:g.54819738A>T | NCBI36 |
| NG_009250.1:g.34718A>T , LRG_309:g.34718A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.46A>T MANE Select | ENSP00000257290.5:p.Thr16Ser | |
| ENST00000257290.9:c.46A>T | ENSP00000257290.5:p.Thr16Ser | |
| ENST00000503856.5:c.46A>T | ENSP00000425902.1:p.Thr16Ser | |
| ENST00000504461.5:c.46A>T | ENSP00000426472.1:p.Thr16Ser | |
| ENST00000507166.5:c.1018-16111A>T | ENSP00000423325.1:n.1018-16111A>T | |
| ENST00000508170.5:c.46A>T | ENSP00000425648.1:p.Thr16Ser | |
| ENST00000509092.5:n.182A>T | ||
| ENST00000509490.5:c.46A>T | ENSP00000424218.1:p.Thr16Ser | |
| ENST00000512143.1:c.121A>T | ENSP00000425626.1:p.Thr41Ser | |
| ENST00000512522.1:c.46A>T | ENSP00000425232.1:p.Thr16Ser | |
| NM_006206.4:c.46A>T , LRG_309t1:c.46A>T | NP_006197.1:p.Thr16Ser | |
| XM_005265743.1:c.46A>T | XP_005265800.1:p.Thr16Ser | |
| XM_006714039.2:c.121A>T | XP_006714102.1:p.Thr41Ser | |
| XM_006714041.2:c.121A>T | XP_006714104.1:p.Thr41Ser | |
| XM_011534385.1:c.46A>T | XP_011532687.1:p.Thr16Ser | |
| XM_011534386.1:c.46A>T | XP_011532688.1:p.Thr16Ser | |
| NM_001347827.1:c.46A>T | NP_001334756.1:p.Thr16Ser | |
| NM_001347828.1:c.121A>T | NP_001334757.1:p.Thr41Ser | |
| NM_001347829.1:c.46A>T | NP_001334758.1:p.Thr16Ser | |
| NM_001347830.1:c.85A>T | NP_001334759.1:p.Thr29Ser | |
| NM_006206.5:c.46A>T | NP_006197.1:p.Thr16Ser | |
| XM_006714041.3:c.121A>T | XP_006714104.1:p.Thr41Ser | |
| XM_017008281.1:c.85A>T | XP_016863770.1:p.Thr29Ser | |
| NM_006206.6:c.46A>T MANE Select | NP_006197.1:p.Thr16Ser | |
| NM_001347827.2:c.46A>T | NP_001334756.1:p.Thr16Ser | |
| NM_001347828.2:c.121A>T | NP_001334757.1:p.Thr41Ser | |
| NM_001347829.2:c.46A>T | NP_001334758.1:p.Thr16Ser | |
| NM_001347830.2:c.85A>T | NP_001334759.1:p.Thr29Ser |