Linked Data
dbSNP Id:
rs1221536793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94522003C>A , CM000673.2:g.94522003C>A | GRCh38 |
| NC_000011.9:g.94255169C>A , CM000673.1:g.94255169C>A | GRCh37 |
| NC_000011.8:g.93894817C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542198.3:c.250+4316C>A MANE Select | ENSP00000490577.1:n.250+4316C>A | |
| NM_001190462.1:c.250+4316C>A | NP_001177391.1:n.250+4316C>A | |
| NM_001190462.2:c.250+4316C>A MANE Select | NP_001177391.1:n.250+4316C>A |