Linked Data
dbSNP Id:
rs1011426441
gnomAD v2:
11-69462809-G-A
gnomAD v3:
11-69648041-G-A
gnomAD v4:
11-69648041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648041G>A , CM000673.2:g.69648041G>A | GRCh38 |
| NC_000011.9:g.69462809G>A , CM000673.1:g.69462809G>A | GRCh37 |
| NC_000011.8:g.69171990G>A | NCBI36 |
| NG_007375.1:g.11937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.622G>A MANE Select | ENSP00000227507.2:p.Val208Met | |
| ENST00000227507.2:c.622G>A | ENSP00000227507.2:p.Val208Met | |
| ENST00000536559.1:c.*42G>A | ENSP00000438482.1:n.*42G>A | |
| ENST00000542367.1:n.85G>A | ||
| ENST00000545484.1:n.328G>A | ||
| NM_053056.2:c.622G>A | NP_444284.1:p.Val208Met | |
| XM_006718653.2:c.646G>A | XP_006718716.1:p.Val216Met | |
| NM_053056.3:c.622G>A MANE Select | NP_444284.1:p.Val208Met |