Linked Data
ClinVar Variation Id:
56459
ClinVar RCV Id:
RCV000049872
dbSNP Id:
rs386833900
ExAC:
19:36335249 C / A
gnomAD v2:
19-36335249-C-A
gnomAD v4:
19-35844347-C-A
PubMed:
PMID:20172850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35844347C>A , CM000681.2:g.35844347C>A | GRCh38 |
| NC_000019.9:g.36335249C>A , CM000681.1:g.36335249C>A | GRCh37 |
| NC_000019.8:g.41027089C>A | NCBI36 |
| NG_013356.2:g.29941G>T , LRG_693:g.29941G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2043G>T MANE Select | ENSP00000368190.4:p.Trp681Cys | |
| ENST00000353632.6:c.2043G>T | ENSP00000343634.5:p.Trp681Cys | |
| ENST00000378910.9:c.2043G>T | ENSP00000368190.4:p.Trp681Cys | |
| ENST00000585400.1:n.225G>T | ||
| NM_004646.3:c.2043G>T , LRG_693t1:c.2043G>T | NP_004637.1:p.Trp681Cys | |
| NM_004646.4:c.2043G>T MANE Select | NP_004637.1:p.Trp681Cys |