Linked Data
dbSNP Id:
rs1222446202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648101C>A , CM000673.2:g.69648101C>A | GRCh38 |
| NC_000011.9:g.69462869C>A , CM000673.1:g.69462869C>A | GRCh37 |
| NC_000011.8:g.69172050C>A | NCBI36 |
| NG_007375.1:g.11997C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.682C>A MANE Select | ENSP00000227507.2:p.Arg228Ser | |
| ENST00000227507.2:c.682C>A | ENSP00000227507.2:p.Arg228Ser | |
| ENST00000536559.1:c.*102C>A | ENSP00000438482.1:n.*102C>A | |
| ENST00000542367.1:n.145C>A | ||
| ENST00000545484.1:n.388C>A | ||
| NM_053056.2:c.682C>A | NP_444284.1:p.Arg228Ser | |
| XM_006718653.2:c.706C>A | XP_006718716.1:p.Arg236Ser | |
| NM_053056.3:c.682C>A MANE Select | NP_444284.1:p.Arg228Ser |