Linked Data
ClinVar Variation Id:
1418344
ClinVar RCV Id:
RCV001930916
gnomAD v4:
9-133351953-A-T
MyVariant Identifiers:
chr9:g.133351953A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133351953A>T , CM000671.2:g.133351953A>T | GRCh38 |
| NC_000009.10:g.135208629A>T | NCBI36 |
| NG_008477.1:g.9554T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.863T>A MANE Select | ENSP00000361042.3:p.Leu288Gln | |
| ENST00000371974.7:c.863T>A | ENSP00000361042.3:p.Leu288Gln | |
| ENST00000437995.1:n.773T>A | ||
| ENST00000495952.5:n.853T>A | ||
| ENST00000615505.4:c.536T>A | ENSP00000482067.1:p.Leu179Gln | |
| NM_001280787.1:c.536T>A | NP_001267716.1:p.Leu179Gln | |
| NM_003172.3:c.863T>A | NP_003163.1:p.Leu288Gln | |
| XM_011518942.1:c.536T>A | XP_011517244.1:p.Leu179Gln | |
| NM_003172.4:c.863T>A MANE Select | NP_003163.1:p.Leu288Gln |