Linked Data
dbSNP Id:
rs749698239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033620C>A , CM000663.2:g.115033620C>A | GRCh38 |
| NC_000001.10:g.115576241C>A , CM000663.1:g.115576241C>A | GRCh37 |
| NC_000001.9:g.115377764C>A | NCBI36 |
| NG_015891.1:g.8827C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.162+96C>A MANE Select | ENSP00000256592.1:n.162+96C>A | |
| ENST00000256592.2:c.162+96C>A | ENSP00000256592.1:n.162+96C>A | |
| ENST00000369517.1:c.162+96C>A | ENSP00000358530.1:n.162+96C>A | |
| NM_000549.4:c.162+96C>A | NP_000540.2:n.162+96C>A | |
| XM_011542065.1:c.162+96C>A | XP_011540367.1:n.162+96C>A | |
| XM_011542065.2:c.162+96C>A | XP_011540367.1:n.162+96C>A | |
| NM_000549.5:c.162+96C>A MANE Select | NP_000540.2:n.162+96C>A |