Linked Data
ClinVar Variation Id:
3413
ClinVar RCV Id:
RCV000003582
dbSNP Id:
rs121434225
gnomAD v4:
1-209789669-G-A
PubMed:
PMID:12219090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209789669G>A , CM000663.2:g.209789669G>A | GRCh38 |
| NC_000001.10:g.209963014G>A , CM000663.1:g.209963014G>A | GRCh37 |
| NC_000001.9:g.208029637G>A | NCBI36 |
| NG_007081.2:g.21466C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696133.1:c.1177C>T | ENSP00000512426.1:p.Gln393Ter | |
| ENST00000696134.1:c.*604C>T | ENSP00000512427.1:n.*604C>T | |
| ENST00000367021.8:c.1177C>T MANE Select | ENSP00000355988.3:p.Gln393Ter | |
| ENST00000643798.1:c.*687C>T | ENSP00000496669.1:n.*687C>T | |
| ENST00000367021.7:c.1177C>T | ENSP00000355988.3:p.Gln393Ter | |
| ENST00000542854.5:c.892C>T | ENSP00000440532.1:p.Gln298Ter | |
| NM_001206696.1:c.892C>T | NP_001193625.1:p.Gln298Ter | |
| NM_006147.3:c.1177C>T | NP_006138.1:p.Gln393Ter | |
| NM_006147.4:c.1177C>T MANE Select | NP_006138.1:p.Gln393Ter | |
| NM_001206696.2:c.892C>T | NP_001193625.1:p.Gln298Ter |