Linked Data
dbSNP Id:
rs987451887
gnomAD v2:
1-17591559-C-A
gnomAD v3:
1-17265064-C-A
gnomAD v4:
1-17265064-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17265064C>A , CM000663.2:g.17265064C>A | GRCh38 |
| NC_000001.10:g.17591559C>A , CM000663.1:g.17591559C>A | GRCh37 |
| NC_000001.9:g.17464146C>A | NCBI36 |
| NG_052788.1:g.20986C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375460.3:c.347-595C>A MANE Select | ENSP00000364609.3:n.347-595C>A | |
| NM_016233.2:c.347-595C>A MANE Select | NP_057317.2:n.347-595C>A | |
| XM_006710684.2:c.233-595C>A | XP_006710747.1:n.233-595C>A | |
| XM_011541571.1:c.233-595C>A | XP_011539873.1:n.233-595C>A | |
| XM_011541572.1:c.347-595C>A | XP_011539874.1:n.347-595C>A | |
| XM_011541571.2:c.233-595C>A | XP_011539873.1:n.233-595C>A | |
| XM_011541572.2:c.347-595C>A | XP_011539874.1:n.347-595C>A |