Linked Data
ClinVar Variation Id:
13597
dbSNP Id:
rs267606784
gnomAD v2:
6-132179875-C-G
gnomAD v4:
6-131858735-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131858735C>G , CM000668.2:g.131858735C>G | GRCh38 |
| NC_000006.11:g.132179875C>G , CM000668.1:g.132179875C>G | GRCh37 |
| NC_000006.10:g.132221568C>G | NCBI36 |
| NG_008206.1:g.55720C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647893.1:c.783C>G MANE Select | ENSP00000498074.1:p.Tyr261Ter | |
| ENST00000650147.1:c.400C>G | ||
| ENST00000650437.1:c.274C>G | ||
| ENST00000360971.6:c.783C>G | ENSP00000354238.2:p.Tyr261Ter | |
| ENST00000513998.5:c.783C>G | ENSP00000422424.1:p.Tyr261Ter | |
| NM_006208.2:c.783C>G | NP_006199.2:p.Tyr261Ter | |
| NM_006208.3:c.783C>G MANE Select | NP_006199.2:p.Tyr261Ter |