Linked Data
ClinVar Variation Id:
370997
ClinVar RCV Id:
RCV000409235
dbSNP Id:
rs1057516927
gnomAD v2:
19-12766651-C-A
gnomAD v3:
19-12655837-C-A
gnomAD v4:
19-12655837-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12655837C>A , CM000681.2:g.12655837C>A | GRCh38 |
| NC_000019.9:g.12766651C>A , CM000681.1:g.12766651C>A | GRCh37 |
| NC_000019.8:g.12627651C>A | NCBI36 |
| NG_008318.1:g.15941G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1687G>T MANE Select | ENSP00000395473.2:p.Glu563Ter | |
| ENST00000221363.8:c.1684G>T | ENSP00000221363.4:p.Glu562Ter | |
| ENST00000433513.5:n.293G>T | ||
| ENST00000456935.6:c.1687G>T | ENSP00000395473.2:p.Glu563Ter | |
| ENST00000466794.5:n.2277G>T | ||
| ENST00000593686.1:c.280G>T | ||
| ENST00000595880.5:n.284G>T | ||
| ENST00000596591.1:c.51G>T | ||
| NM_000528.3:c.1687G>T | NP_000519.2:p.Glu563Ter | |
| NM_001173498.1:c.1684G>T | NP_001166969.1:p.Glu562Ter | |
| XM_005259913.1:c.1690G>T | XP_005259970.1:p.Glu564Ter | |
| XM_011528017.1:c.586G>T | XP_011526319.1:p.Glu196Ter | |
| XM_005259913.2:c.1690G>T | XP_005259970.1:p.Glu564Ter | |
| XM_024451518.1:c.586G>T | XP_024307286.1:p.Glu196Ter | |
| NM_000528.4:c.1687G>T MANE Select | NP_000519.2:p.Glu563Ter | |
| NM_001173498.2:c.1684G>T | NP_001166969.1:p.Glu562Ter |