Linked Data
ClinVar Variation Id:
1001883
ClinVar RCV Id:
RCV001298240
gnomAD v4:
9-133352447-G-C
MyVariant Identifiers:
chr9:g.133352447G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352447G>C , CM000671.2:g.133352447G>C | GRCh38 |
| NC_000009.10:g.135209123G>C | NCBI36 |
| NG_008477.1:g.9060C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.750C>G MANE Select | ENSP00000361042.3:p.Phe250Leu | |
| ENST00000371974.7:c.750C>G | ENSP00000361042.3:p.Phe250Leu | |
| ENST00000437995.1:n.660C>G | ||
| ENST00000495952.5:n.740C>G | ||
| ENST00000615505.4:c.423C>G | ENSP00000482067.1:p.Phe141Leu | |
| NM_001280787.1:c.423C>G | NP_001267716.1:p.Phe141Leu | |
| NM_003172.3:c.750C>G | NP_003163.1:p.Phe250Leu | |
| XM_011518942.1:c.423C>G | XP_011517244.1:p.Phe141Leu | |
| NM_003172.4:c.750C>G MANE Select | NP_003163.1:p.Phe250Leu |