Linked Data
ClinVar Variation Id:
12971
ClinVar RCV Id:
RCV000013838
RCV000119711
RCV000614410
RCV000796565
RCV001787731
RCV001787726
RCV001787727
RCV001787728
RCV001787729
RCV001787730
RCV001787732
RCV002490361
dbSNP Id:
rs28933397
gnomAD v2:
19-38991294-C-T
gnomAD v3:
19-38500654-C-T
gnomAD v4:
19-38500654-C-T
PubMed:
PMID:9334205
PMID:9450902
PMID:9873004
PMID:11668625
PMID:16835904
PMID:16958617
PMID:24433488
ERepo:
CA024784/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38500654C>T , CM000681.2:g.38500654C>T | GRCh38 |
| NC_000019.9:g.38991294C>T , CM000681.1:g.38991294C>T | GRCh37 |
| NC_000019.8:g.43683134C>T | NCBI36 |
| NG_008866.1:g.71955C>T , LRG_766:g.71955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7372C>T | ENSP00000471601.2:p.Arg2458Cys | |
| ENST00000359596.8:c.7372C>T MANE Select | ENSP00000352608.2:p.Arg2458Cys | |
| ENST00000355481.8:c.7372C>T | ENSP00000347667.3:p.Arg2458Cys | |
| ENST00000359596.7:c.7372C>T | ENSP00000352608.2:p.Arg2458Cys | |
| ENST00000360985.7:c.7369C>T | ENSP00000354254.4:p.Arg2457Cys | |
| ENST00000594335.5:c.824C>T | ||
| NM_000540.2:c.7372C>T , LRG_766t1:c.7372C>T | NP_000531.2:p.Arg2458Cys | |
| NM_001042723.1:c.7372C>T | NP_001036188.1:p.Arg2458Cys | |
| XM_006723317.1:c.7372C>T | XP_006723380.1:p.Arg2458Cys | |
| XM_006723319.1:c.7372C>T | XP_006723382.1:p.Arg2458Cys | |
| XM_011527204.1:c.7369C>T | XP_011525506.1:p.Arg2457Cys | |
| XM_011527205.1:c.7372C>T | XP_011525507.1:p.Arg2458Cys | |
| XM_006723317.2:c.7372C>T | XP_006723380.1:p.Arg2458Cys | |
| XM_006723319.2:c.7372C>T | XP_006723382.1:p.Arg2458Cys | |
| XM_011527205.2:c.7372C>T | XP_011525507.1:p.Arg2458Cys | |
| XR_001753735.1:n.7455C>T | ||
| NM_000540.3:c.7372C>T MANE Select | NP_000531.2:p.Arg2458Cys | |
| NM_001042723.2:c.7372C>T | NP_001036188.1:p.Arg2458Cys |