Linked Data
dbSNP Id:
rs746640562
ExAC:
11:69462857 C / A
gnomAD v2:
11-69462857-C-A
gnomAD v4:
11-69648089-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648089C>A , CM000673.2:g.69648089C>A | GRCh38 |
| NC_000011.9:g.69462857C>A , CM000673.1:g.69462857C>A | GRCh37 |
| NC_000011.8:g.69172038C>A | NCBI36 |
| NG_007375.1:g.11985C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.670C>A MANE Select | ENSP00000227507.2:p.Leu224Met | |
| ENST00000227507.2:c.670C>A | ENSP00000227507.2:p.Leu224Met | |
| ENST00000536559.1:c.*90C>A | ENSP00000438482.1:n.*90C>A | |
| ENST00000542367.1:n.133C>A | ||
| ENST00000545484.1:n.376C>A | ||
| NM_053056.2:c.670C>A | NP_444284.1:p.Leu224Met | |
| XM_006718653.2:c.694C>A | XP_006718716.1:p.Leu232Met | |
| NM_053056.3:c.670C>A MANE Select | NP_444284.1:p.Leu224Met |