Linked Data
ClinVar Variation Id:
880
dbSNP Id:
rs118203941
ExAC:
5:78077797 C / T
gnomAD v2:
5-78077797-C-T
gnomAD v3:
5-78781974-C-T
gnomAD v4:
5-78781974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78781974C>T , CM000667.2:g.78781974C>T | GRCh38 |
| NC_000005.9:g.78077797C>T , CM000667.1:g.78077797C>T | GRCh37 |
| NC_000005.8:g.78113553C>T | NCBI36 |
| NG_007089.1:g.209561G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264914.10:c.1214G>A MANE Select | ENSP00000264914.4:p.Cys405Tyr | |
| ENST00000264914.8:c.1214G>A | ENSP00000264914.4:p.Cys405Tyr | |
| ENST00000521011.1:n.179G>A | ||
| NM_000046.3:c.1214G>A | NP_000037.2:p.Cys405Tyr | |
| XM_011543390.1:c.1214G>A | XP_011541692.1:p.Cys405Tyr | |
| NM_000046.4:c.1214G>A | NP_000037.2:p.Cys405Tyr | |
| XR_001742066.2:n.1466G>A | ||
| NM_000046.5:c.1214G>A MANE Select | NP_000037.2:p.Cys405Tyr |