Linked Data
ClinVar Variation Id:
496812
dbSNP Id:
rs574007567
gnomAD v2:
11-17574667-C-G
gnomAD v3:
11-17553120-C-G
gnomAD v4:
11-17553120-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553120C>G , CM000673.2:g.17553120C>G | GRCh38 |
| NC_000011.9:g.17574667C>G , CM000673.1:g.17574667C>G | GRCh37 |
| NC_000011.8:g.17531243C>G | NCBI36 |
| NG_033191.1:g.10748C>G | |
| NG_033191.2:g.10748C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.330C>G | ENSP00000382323.2:p.Tyr110Ter | |
| ENST00000399397.6:c.294C>G MANE Select | ENSP00000382329.2:p.Tyr98Ter | |
| ENST00000399391.6:c.330C>G | ENSP00000382323.2:p.Tyr110Ter | |
| ENST00000399397.5:c.294C>G | ENSP00000382329.2:p.Tyr98Ter | |
| ENST00000428619.1:c.111C>G | ENSP00000399057.2:p.Tyr37Ter | |
| ENST00000498332.5:n.200C>G | ||
| NM_001277269.1:c.330C>G | NP_001264198.1:p.Tyr110Ter | |
| NM_001292063.1:c.294C>G | NP_001278992.1:p.Tyr98Ter | |
| NM_001277269.2:c.330C>G | NP_001264198.1:p.Tyr110Ter | |
| NM_001292063.2:c.294C>G MANE Select | NP_001278992.1:p.Tyr98Ter |