Linked Data
ClinVar Variation Id:
132995
ClinVar RCV Id:
RCV000119411
dbSNP Id:
rs193922747
gnomAD v2:
19-38931442-T-C
gnomAD v3:
19-38440802-T-C
gnomAD v4:
19-38440802-T-C
PubMed:
PMID:17710899
ERepo:
CA023838/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38440802T>C , CM000681.2:g.38440802T>C | GRCh38 |
| NC_000019.9:g.38931442T>C , CM000681.1:g.38931442T>C | GRCh37 |
| NC_000019.8:g.43623282T>C | NCBI36 |
| NG_008866.1:g.12103T>C , LRG_766:g.12103T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.103T>C | ENSP00000471601.2:p.Cys35Arg | |
| ENST00000359596.8:c.103T>C MANE Select | ENSP00000352608.2:p.Cys35Arg | |
| ENST00000355481.8:c.103T>C | ENSP00000347667.3:p.Cys35Arg | |
| ENST00000359596.7:c.103T>C | ENSP00000352608.2:p.Cys35Arg | |
| ENST00000360985.7:c.103T>C | ENSP00000354254.4:p.Cys35Arg | |
| NM_000540.2:c.103T>C , LRG_766t1:c.103T>C | NP_000531.2:p.Cys35Arg | |
| NM_001042723.1:c.103T>C | NP_001036188.1:p.Cys35Arg | |
| XM_006723317.1:c.103T>C | XP_006723380.1:p.Cys35Arg | |
| XM_006723319.1:c.103T>C | XP_006723382.1:p.Cys35Arg | |
| XM_011527204.1:c.103T>C | XP_011525506.1:p.Cys35Arg | |
| XM_011527205.1:c.103T>C | XP_011525507.1:p.Cys35Arg | |
| XM_006723317.2:c.103T>C | XP_006723380.1:p.Cys35Arg | |
| XM_006723319.2:c.103T>C | XP_006723382.1:p.Cys35Arg | |
| XM_011527205.2:c.103T>C | XP_011525507.1:p.Cys35Arg | |
| XR_001753735.1:n.186T>C | ||
| NM_000540.3:c.103T>C MANE Select | NP_000531.2:p.Cys35Arg | |
| NM_001042723.2:c.103T>C | NP_001036188.1:p.Cys35Arg |