Linked Data
ClinVar Variation Id:
133045
ClinVar RCV Id:
RCV000119473
RCV001238887
RCV001588936
RCV001787950
RCV001787944
RCV001787945
RCV001787946
RCV001787947
RCV001787948
RCV001787949
RCV003338417
dbSNP Id:
rs193922748
gnomAD v2:
19-38931469-C-T
gnomAD v4:
19-38440829-C-T
COSMIC:
COSM249089
ERepo:
CA024034/MONDO:0007783/012
PubMed:
PMID:12709367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38440829C>T , CM000681.2:g.38440829C>T | GRCh38 |
| NC_000019.9:g.38931469C>T , CM000681.1:g.38931469C>T | GRCh37 |
| NC_000019.8:g.43623309C>T | NCBI36 |
| NG_008866.1:g.12130C>T , LRG_766:g.12130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.130C>T | ENSP00000471601.2:p.Arg44Cys | |
| ENST00000359596.8:c.130C>T MANE Select | ENSP00000352608.2:p.Arg44Cys | |
| ENST00000355481.8:c.130C>T | ENSP00000347667.3:p.Arg44Cys | |
| ENST00000359596.7:c.130C>T | ENSP00000352608.2:p.Arg44Cys | |
| ENST00000360985.7:c.130C>T | ENSP00000354254.4:p.Arg44Cys | |
| NM_000540.2:c.130C>T , LRG_766t1:c.130C>T | NP_000531.2:p.Arg44Cys | |
| NM_001042723.1:c.130C>T | NP_001036188.1:p.Arg44Cys | |
| XM_006723317.1:c.130C>T | XP_006723380.1:p.Arg44Cys | |
| XM_006723319.1:c.130C>T | XP_006723382.1:p.Arg44Cys | |
| XM_011527204.1:c.130C>T | XP_011525506.1:p.Arg44Cys | |
| XM_011527205.1:c.130C>T | XP_011525507.1:p.Arg44Cys | |
| XM_006723317.2:c.130C>T | XP_006723380.1:p.Arg44Cys | |
| XM_006723319.2:c.130C>T | XP_006723382.1:p.Arg44Cys | |
| XM_011527205.2:c.130C>T | XP_011525507.1:p.Arg44Cys | |
| XR_001753735.1:n.213C>T | ||
| NM_000540.3:c.130C>T MANE Select | NP_000531.2:p.Arg44Cys | |
| NM_001042723.2:c.130C>T | NP_001036188.1:p.Arg44Cys |