Linked Data
ClinVar Variation Id:
365530
gnomAD v3:
9-133354853-C-G
gnomAD v4:
9-133354853-C-G
MyVariant Identifiers:
chr9:g.133354853C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133354853C>G , CM000671.2:g.133354853C>G | GRCh38 |
| NC_000009.10:g.135211529C>G | NCBI36 |
| NG_008477.1:g.6654G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.211G>C MANE Select | ENSP00000361042.3:p.Val71Leu | |
| ENST00000371974.7:c.211G>C | ENSP00000361042.3:p.Val71Leu | |
| ENST00000437995.1:n.157G>C | ||
| ENST00000615505.4:c.-117G>C | ENSP00000482067.1:n.-117G>C | |
| NM_001280787.1:c.-117G>C | NP_001267716.1:n.-117G>C | |
| NM_003172.3:c.211G>C | NP_003163.1:p.Val71Leu | |
| XM_011518942.1:c.-117G>C | XP_011517244.1:n.-117G>C | |
| NM_003172.4:c.211G>C MANE Select | NP_003163.1:p.Val71Leu |