Linked Data
dbSNP Id:
rs1184643598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119000518T>A , CM000670.2:g.119000518T>A | GRCh38 |
| NC_000008.10:g.120012757T>A , CM000670.1:g.120012757T>A | GRCh37 |
| NC_000008.9:g.120081938T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521788.1:n.122+4945T>A | ||
| XM_005250756.2:c.-60+48140T>A | XP_005250813.1:n.-60+48140T>A | |
| NM_001324095.1:c.-323-36918T>A | NP_001311024.1:n.-323-36918T>A | |
| XM_005250756.3:c.-60+48140T>A | XP_005250813.1:n.-60+48140T>A | |
| NM_001324095.2:c.-323-36918T>A | NP_001311024.1:n.-323-36918T>A |