Linked Data
ClinVar Variation Id:
418018
dbSNP Id:
rs1064793027
gnomAD v2:
5-78076373-T-A
gnomAD v3:
5-78780550-T-A
gnomAD v4:
5-78780550-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780550T>A , CM000667.2:g.78780550T>A | GRCh38 |
| NC_000005.9:g.78076373T>A , CM000667.1:g.78076373T>A | GRCh37 |
| NC_000005.8:g.78112129T>A | NCBI36 |
| NG_007089.1:g.210985A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264914.10:c.1449A>T MANE Select | ENSP00000264914.4:p.Glu483Asp | |
| ENST00000264914.8:c.1449A>T | ENSP00000264914.4:p.Glu483Asp | |
| ENST00000521011.1:n.414A>T | ||
| NM_000046.3:c.1449A>T | NP_000037.2:p.Glu483Asp | |
| XM_011543390.1:c.1449A>T | XP_011541692.1:p.Glu483Asp | |
| NM_000046.4:c.1449A>T | NP_000037.2:p.Glu483Asp | |
| NM_000046.5:c.1449A>T MANE Select | NP_000037.2:p.Glu483Asp |