Linked Data
ClinVar Variation Id:
1389234
ClinVar RCV Id:
RCV001908561
gnomAD v4:
9-133351980-T-A
MyVariant Identifiers:
chr9:g.133351980T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133351980T>A , CM000671.2:g.133351980T>A | GRCh38 |
| NC_000009.10:g.135208656T>A | NCBI36 |
| NG_008477.1:g.9527A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.836A>T MANE Select | ENSP00000361042.3:p.Tyr279Phe | |
| ENST00000371974.7:c.836A>T | ENSP00000361042.3:p.Tyr279Phe | |
| ENST00000437995.1:n.746A>T | ||
| ENST00000495952.5:n.826A>T | ||
| ENST00000615505.4:c.509A>T | ENSP00000482067.1:p.Tyr170Phe | |
| NM_001280787.1:c.509A>T | NP_001267716.1:p.Tyr170Phe | |
| NM_003172.3:c.836A>T | NP_003163.1:p.Tyr279Phe | |
| XM_011518942.1:c.509A>T | XP_011517244.1:p.Tyr170Phe | |
| NM_003172.4:c.836A>T MANE Select | NP_003163.1:p.Tyr279Phe |