Linked Data
dbSNP Id:
rs1950606077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045811G>A , CM000675.2:g.48045811G>A | GRCh38 |
| NC_000013.10:g.48619947G>A , CM000675.1:g.48619947G>A | GRCh37 |
| NC_000013.9:g.47517948G>A | NCBI36 |
| NG_047021.1:g.13245G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*12G>A MANE Select | ENSP00000258662.1:n.*12G>A | |
| ENST00000258662.2:c.*12G>A | ENSP00000258662.1:n.*12G>A | |
| NM_018283.2:c.*12G>A | NP_060753.1:n.*12G>A | |
| NM_018283.3:c.*12G>A | NP_060753.1:n.*12G>A | |
| NR_136687.1:n.687G>A | ||
| NR_136688.1:n.675+12G>A | ||
| NM_018283.4:c.*12G>A MANE Select | NP_060753.1:n.*12G>A | |
| NR_136687.2:n.528G>A | ||
| NR_136688.2:n.516+12G>A |