Linked Data
ClinVar Variation Id:
56488
ClinVar RCV Id:
RCV000049901
dbSNP Id:
rs386833927
PubMed:
PMID:20172850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35841710C>T , CM000681.2:g.35841710C>T | GRCh38 |
| NC_000019.9:g.36332612C>T , CM000681.1:g.36332612C>T | GRCh37 |
| NC_000019.8:g.41024452C>T | NCBI36 |
| NG_013356.2:g.32578G>A , LRG_693:g.32578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2815+5G>A MANE Select | ENSP00000368190.4:n.2815+5G>A | |
| ENST00000353632.6:c.2815+5G>A | ENSP00000343634.5:n.2815+5G>A | |
| ENST00000378910.9:c.2815+5G>A | ENSP00000368190.4:n.2815+5G>A | |
| NM_004646.3:c.2815+5G>A , LRG_693t1:c.2815+5G>A | NP_004637.1:n.2815+5G>A | |
| NM_004646.4:c.2815+5G>A MANE Select | NP_004637.1:n.2815+5G>A |