Linked Data
ClinVar Variation Id:
425431
dbSNP Id:
rs200846354
ExAC:
8:10465649 G / A
gnomAD v2:
8-10465649-G-A
gnomAD v3:
8-10608139-G-A
gnomAD v4:
8-10608139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10608139G>A , CM000670.2:g.10608139G>A | GRCh38 |
| NC_000008.10:g.10465649G>A , CM000670.1:g.10465649G>A | GRCh37 |
| NC_000008.9:g.10503059G>A | NCBI36 |
| NG_028035.1:g.51969C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382483.4:c.5959C>T MANE Select | ENSP00000371923.3:p.Gln1987Ter | |
| ENST00000382483.3:c.5959C>T | ENSP00000371923.3:p.Gln1987Ter | |
| NM_178857.5:c.5959C>T | NP_849188.4:p.Gln1987Ter | |
| NM_178857.6:c.5959C>T MANE Select | NP_849188.4:p.Gln1987Ter |