Linked Data
ClinVar Variation Id:
56504
ClinVar RCV Id:
RCV000049917
dbSNP Id:
rs386833942
gnomAD v4:
19-35851090-C-T
PubMed:
PMID:18503012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35851090C>T , CM000681.2:g.35851090C>T | GRCh38 |
| NC_000019.9:g.36341992C>T , CM000681.1:g.36341992C>T | GRCh37 |
| NC_000019.8:g.41033832C>T | NCBI36 |
| NG_013356.2:g.23198G>A , LRG_693:g.23198G>A | |
| NG_051206.1:g.4456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.398-1G>A MANE Select | ENSP00000368190.4:n.398-1G>A | |
| ENST00000353632.6:c.398-1G>A | ENSP00000343634.5:n.398-1G>A | |
| ENST00000378910.9:c.398-1G>A | ENSP00000368190.4:n.398-1G>A | |
| NM_004646.3:c.398-1G>A , LRG_693t1:c.398-1G>A | NP_004637.1:n.398-1G>A | |
| NM_004646.4:c.398-1G>A MANE Select | NP_004637.1:n.398-1G>A |