Linked Data
ClinVar Variation Id:
361239
ClinVar RCV Id:
RCV000317673
dbSNP Id:
rs747180512
ExAC:
8:10465815 G / A
gnomAD v2:
8-10465815-G-A
gnomAD v3:
8-10608305-G-A
gnomAD v4:
8-10608305-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10608305G>A , CM000670.2:g.10608305G>A | GRCh38 |
| NC_000008.10:g.10465815G>A , CM000670.1:g.10465815G>A | GRCh37 |
| NC_000008.9:g.10503225G>A | NCBI36 |
| NG_028035.1:g.51803C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382483.4:c.5793C>T MANE Select | ENSP00000371923.3:p.Asp1931= | |
| ENST00000382483.3:c.5793C>T | ENSP00000371923.3:p.Asp1931= | |
| NM_178857.5:c.5793C>T | NP_849188.4:p.Asp1931= | |
| NM_178857.6:c.5793C>T MANE Select | NP_849188.4:p.Asp1931= |