Linked Data
ClinVar Variation Id:
489359
ClinVar RCV Id:
RCV000579233
dbSNP Id:
rs930688767
gnomAD v2:
11-17631903-C-T
gnomAD v3:
11-17610356-C-T
gnomAD v4:
11-17610356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17610356C>T , CM000673.2:g.17610356C>T | GRCh38 |
| NC_000011.9:g.17631903C>T , CM000673.1:g.17631903C>T | GRCh37 |
| NC_000011.8:g.17588479C>T | NCBI36 |
| NG_033191.1:g.67984C>T | |
| NG_033191.2:g.67984C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.5092C>T | ENSP00000382323.2:p.Gln1698Ter | |
| ENST00000399397.6:c.5056C>T MANE Select | ENSP00000382329.2:p.Gln1686Ter | |
| ENST00000342528.2:c.2110C>T | ENSP00000341666.2:p.Gln704Ter | |
| ENST00000399391.6:c.5092C>T | ENSP00000382323.2:p.Gln1698Ter | |
| ENST00000399397.5:c.5056C>T | ENSP00000382329.2:p.Gln1686Ter | |
| NM_001277269.1:c.5092C>T | NP_001264198.1:p.Gln1698Ter | |
| NM_001292063.1:c.5056C>T | NP_001278992.1:p.Gln1686Ter | |
| NM_001277269.2:c.5092C>T | NP_001264198.1:p.Gln1698Ter | |
| NM_001292063.2:c.5056C>T MANE Select | NP_001278992.1:p.Gln1686Ter |