Linked Data
ClinVar Variation Id:
417941
dbSNP Id:
rs554847663
ExAC:
11:17596437 C / T
gnomAD v2:
11-17596437-C-T
gnomAD v3:
11-17574890-C-T
gnomAD v4:
11-17574890-C-T
PubMed:
PMID:10655058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17574890C>T , CM000673.2:g.17574890C>T | GRCh38 |
| NC_000011.9:g.17596437C>T , CM000673.1:g.17596437C>T | GRCh37 |
| NC_000011.8:g.17553013C>T | NCBI36 |
| NG_033191.1:g.32518C>T | |
| NG_033191.2:g.32518C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.2500C>T | ENSP00000382323.2:p.Gln834Ter | |
| ENST00000399397.6:c.2464C>T MANE Select | ENSP00000382329.2:p.Gln822Ter | |
| ENST00000399391.6:c.2500C>T | ENSP00000382323.2:p.Gln834Ter | |
| ENST00000399397.5:c.2464C>T | ENSP00000382329.2:p.Gln822Ter | |
| NM_001277269.1:c.2500C>T | NP_001264198.1:p.Gln834Ter | |
| NM_001292063.1:c.2464C>T | NP_001278992.1:p.Gln822Ter | |
| NM_001277269.2:c.2500C>T | NP_001264198.1:p.Gln834Ter | |
| NM_001292063.2:c.2464C>T MANE Select | NP_001278992.1:p.Gln822Ter |