Linked Data
ClinVar Variation Id:
243077
gnomAD v3:
9-133352696-G-A
gnomAD v4:
9-133352696-G-A
MyVariant Identifiers:
chr9:g.133352696G>A (hg38)
PubMed:
PMID:26257172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352696G>A , CM000671.2:g.133352696G>A | GRCh38 |
| NC_000009.10:g.135209372G>A | NCBI36 |
| NG_008477.1:g.8811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.586C>T MANE Select | ENSP00000361042.3:p.Gln196Ter | |
| ENST00000371974.7:c.586C>T | ENSP00000361042.3:p.Gln196Ter | |
| ENST00000437995.1:n.496C>T | ||
| ENST00000495952.5:n.576C>T | ||
| ENST00000615505.4:c.259C>T | ENSP00000482067.1:p.Gln87Ter | |
| NM_001280787.1:c.259C>T | NP_001267716.1:p.Gln87Ter | |
| NM_003172.3:c.586C>T | NP_003163.1:p.Gln196Ter | |
| XM_011518942.1:c.259C>T | XP_011517244.1:p.Gln87Ter | |
| NM_003172.4:c.586C>T MANE Select | NP_003163.1:p.Gln196Ter |