Linked Data
ClinVar Variation Id:
1954150
ClinVar RCV Id:
RCV002705387
dbSNP Id:
rs1779945727
gnomAD v3:
6-143462969-G-A
gnomAD v4:
6-143462969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143462969G>A , CM000668.2:g.143462969G>A | GRCh38 |
| NC_000006.11:g.143784106G>A , CM000668.1:g.143784106G>A | GRCh37 |
| NC_000006.10:g.143825799G>A | NCBI36 |
| NG_008459.1:g.17189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.259G>A MANE Select | ENSP00000356563.4:p.Glu87Lys | |
| ENST00000367591.4:c.259G>A | ENSP00000356563.4:p.Glu87Lys | |
| ENST00000367592.5:c.127G>A | ENSP00000356564.1:p.Glu43Lys | |
| NM_003630.2:c.259G>A | NP_003621.1:p.Glu87Lys | |
| NM_003630.3:c.259G>A MANE Select | NP_003621.1:p.Glu87Lys |