Linked Data
dbSNP Id:
rs2120109271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648069T>A , CM000673.2:g.69648069T>A | GRCh38 |
| NC_000011.9:g.69462837T>A , CM000673.1:g.69462837T>A | GRCh37 |
| NC_000011.8:g.69172018T>A | NCBI36 |
| NG_007375.1:g.11965T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.650T>A MANE Select | ENSP00000227507.2:p.Leu217Gln | |
| ENST00000227507.2:c.650T>A | ENSP00000227507.2:p.Leu217Gln | |
| ENST00000536559.1:c.*70T>A | ENSP00000438482.1:n.*70T>A | |
| ENST00000542367.1:n.113T>A | ||
| ENST00000545484.1:n.356T>A | ||
| NM_053056.2:c.650T>A | NP_444284.1:p.Leu217Gln | |
| XM_006718653.2:c.674T>A | XP_006718716.1:p.Leu225Gln | |
| NM_053056.3:c.650T>A MANE Select | NP_444284.1:p.Leu217Gln |