Linked Data
ClinVar Variation Id:
1975131
ClinVar RCV Id:
RCV002746450
dbSNP Id:
rs999971011
gnomAD v4:
19-18599567-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599567C>T , CM000681.2:g.18599567C>T | GRCh38 |
| NC_000019.9:g.18710377C>T , CM000681.1:g.18710377C>T | GRCh37 |
| NC_000019.8:g.18571377C>T | NCBI36 |
| NG_013370.1:g.12284G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.395G>A | ENSP00000506849.1:p.Gly132Asp | |
| ENST00000392386.8:c.395G>A MANE Select | ENSP00000376188.2:p.Gly132Asp | |
| ENST00000392386.7:c.395G>A | ENSP00000376188.2:p.Gly132Asp | |
| NM_004750.4:c.395G>A | NP_004741.1:p.Gly132Asp | |
| XM_011528422.1:c.329G>A | XP_011526724.1:p.Gly110Asp | |
| XM_011528423.1:c.395G>A | XP_011526725.1:p.Gly132Asp | |
| XM_011528424.1:c.329G>A | XP_011526726.1:p.Gly110Asp | |
| XM_011528422.2:c.329G>A | XP_011526724.1:p.Gly110Asp | |
| XM_011528423.2:c.395G>A | XP_011526725.1:p.Gly132Asp | |
| XM_011528424.3:c.329G>A | XP_011526726.1:p.Gly110Asp | |
| NM_004750.5:c.395G>A MANE Select | NP_004741.1:p.Gly132Asp |