Linked Data
ClinVar Variation Id:
438196
dbSNP Id:
rs1291867456
gnomAD v3:
6-64593219-G-A
gnomAD v4:
6-64593219-G-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64593219G>A , CM000668.2:g.64593219G>A | GRCh38 |
| NC_000006.11:g.65303112G>A , CM000668.1:g.65303112G>A | GRCh37 |
| NC_000006.10:g.65359833G>A | NCBI36 |
| NG_023443.1:g.1119007C>T | |
| NG_023443.2:g.1119007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.3775C>T MANE Select | ENSP00000424243.1:p.Gln1259Ter | |
| ENST00000330816.5:n.396C>T | ||
| ENST00000370616.6:c.3775C>T | ENSP00000359650.2:p.Gln1259Ter | |
| ENST00000370618.7:c.3775C>T | ENSP00000359652.4:p.Gln1259Ter | |
| ENST00000370621.7:c.3775C>T | ENSP00000359655.3:p.Gln1259Ter | |
| ENST00000503581.5:c.3775C>T | ENSP00000424243.1:p.Gln1259Ter | |
| NM_001142800.1:c.3775C>T | NP_001136272.1:p.Gln1259Ter | |
| NM_001292009.1:c.3775C>T | NP_001278938.1:p.Gln1259Ter | |
| NM_001142800.2:c.3775C>T MANE Select | NP_001136272.1:p.Gln1259Ter | |
| NM_001292009.2:c.3775C>T | NP_001278938.1:p.Gln1259Ter |