Linked Data
ClinVar Variation Id:
56502
ClinVar RCV Id:
RCV000049915
dbSNP Id:
rs386833940
ExAC:
19:36317549 T / C
gnomAD v2:
19-36317549-T-C
gnomAD v4:
19-35826647-T-C
PubMed:
PMID:18503012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826647T>C , CM000681.2:g.35826647T>C | GRCh38 |
| NC_000019.9:g.36317549T>C , CM000681.1:g.36317549T>C | GRCh37 |
| NC_000019.8:g.41009389T>C | NCBI36 |
| NG_013356.2:g.47641A>G , LRG_693:g.47641A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3595-2A>G MANE Select | ENSP00000368190.4:n.3595-2A>G | |
| ENST00000353632.6:c.3475-2A>G | ENSP00000343634.5:n.3475-2A>G | |
| ENST00000378910.9:c.3595-2A>G | ENSP00000368190.4:n.3595-2A>G | |
| NM_004646.3:c.3595-2A>G , LRG_693t1:c.3595-2A>G | NP_004637.1:n.3595-2A>G | |
| NM_004646.4:c.3595-2A>G MANE Select | NP_004637.1:n.3595-2A>G |