Linked Data
ClinVar Variation Id:
320428
dbSNP Id:
rs201202896
ExAC:
16:72055187 G / A
gnomAD v2:
16-72055187-G-A
gnomAD v3:
16-72021288-G-A
gnomAD v4:
16-72021288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72021288G>A , CM000678.2:g.72021288G>A | GRCh38 |
| NC_000016.9:g.72055187G>A , CM000678.1:g.72055187G>A | GRCh37 |
| NC_000016.8:g.70612688G>A | NCBI36 |
| NG_016271.1:g.17545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.682G>A MANE Select | ENSP00000219240.4:p.Glu228Lys | |
| ENST00000219240.8:c.682G>A | ENSP00000219240.4:p.Glu228Lys | |
| ENST00000571392.1:n.1485-1877G>A | ||
| ENST00000572887.5:c.682G>A | ENSP00000461848.1:p.Glu228Lys | |
| ENST00000573922.5:n.314-1877G>A | ||
| ENST00000574309.5:c.514-2857G>A | ||
| NM_001361.4:c.682G>A | NP_001352.2:p.Glu228Lys | |
| XM_005255827.2:c.598G>A | XP_005255884.1:p.Glu200Lys | |
| XM_005255828.3:c.274G>A | XP_005255885.1:p.Glu92Lys | |
| XM_005255829.2:c.253G>A | XP_005255886.1:p.Glu85Lys | |
| XM_005255827.4:c.598G>A | XP_005255884.1:p.Glu200Lys | |
| XM_005255829.4:c.253G>A | XP_005255886.1:p.Glu85Lys | |
| XM_017022990.2:c.355G>A | XP_016878479.1:p.Glu119Lys | |
| NM_001361.5:c.682G>A MANE Select | NP_001352.2:p.Glu228Lys |