Linked Data
ClinVar Variation Id:
329095
dbSNP Id:
rs118204421
ExAC:
19:39009877 C / T
gnomAD v2:
19-39009877-C-T
gnomAD v3:
19-38519237-C-T
gnomAD v4:
19-38519237-C-T
ERepo:
CA079715/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38519237C>T , CM000681.2:g.38519237C>T | GRCh38 |
| NC_000019.9:g.39009877C>T , CM000681.1:g.39009877C>T | GRCh37 |
| NC_000019.8:g.43701717C>T | NCBI36 |
| NG_008866.1:g.90538C>T , LRG_766:g.90538C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.9981C>T | ENSP00000471601.2:n.9981C>T | |
| ENST00000359596.8:c.10042C>T MANE Select | ENSP00000352608.2:p.Arg3348Cys | |
| ENST00000355481.8:c.10042C>T | ENSP00000347667.3:p.Arg3348Cys | |
| ENST00000359596.7:c.10042C>T | ENSP00000352608.2:p.Arg3348Cys | |
| ENST00000360985.7:c.10039C>T | ENSP00000354254.4:p.Arg3347Cys | |
| ENST00000594335.5:c.3444C>T | ||
| ENST00000599547.5:c.849C>T | ||
| NM_000540.2:c.10042C>T , LRG_766t1:c.10042C>T | NP_000531.2:p.Arg3348Cys | |
| NM_001042723.1:c.10042C>T | NP_001036188.1:p.Arg3348Cys | |
| XM_006723317.1:c.10042C>T | XP_006723380.1:p.Arg3348Cys | |
| XM_006723319.1:c.10042C>T | XP_006723382.1:p.Arg3348Cys | |
| XM_011527204.1:c.10039C>T | XP_011525506.1:p.Arg3347Cys | |
| XM_011527205.1:c.10042C>T | XP_011525507.1:p.Arg3348Cys | |
| XM_006723317.2:c.10042C>T | XP_006723380.1:p.Arg3348Cys | |
| XM_006723319.2:c.10042C>T | XP_006723382.1:p.Arg3348Cys | |
| XM_011527205.2:c.10042C>T | XP_011525507.1:p.Arg3348Cys | |
| NM_000540.3:c.10042C>T MANE Select | NP_000531.2:p.Arg3348Cys | |
| NM_001042723.2:c.10042C>T | NP_001036188.1:p.Arg3348Cys |