Linked Data
ClinVar Variation Id:
441140
ClinVar RCV Id:
RCV000509459
dbSNP Id:
rs4932676
gnomAD v2:
15-20739634-A-C
gnomAD v3:
15-20534396-A-C
gnomAD v4:
15-20534396-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.20534396A>C , CM000677.2:g.20534396A>C | GRCh38 |
| NC_000015.9:g.20739634A>C , CM000677.1:g.20739634A>C | GRCh37 |
| NC_000015.8:g.18999648A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619213.1:c.2038T>G MANE Select | ENSP00000480376.1:p.Trp680Gly | |
| NM_001145004.2:c.2038T>G MANE Select | NP_001138476.2:p.Trp680Gly |