Linked Data
ClinVar Variation Id:
543115
ClinVar RCV Id:
RCV000653776
dbSNP Id:
rs1412425868
gnomAD v3:
11-32435189-G-C
gnomAD v4:
11-32435189-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32435189G>C , CM000673.2:g.32435189G>C | GRCh38 |
| NC_000011.9:g.32456735G>C , CM000673.1:g.32456735G>C | GRCh37 |
| NC_000011.8:g.32413311G>C | NCBI36 |
| NG_009272.1:g.5353C>G , LRG_525:g.5353C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.172C>G | ENSP00000331327.5:p.Leu58Val | |
| ENST00000379077.9:c.172C>G | ENSP00000368368.5:p.Leu58Val | |
| ENST00000448076.9:c.172C>G | ENSP00000413452.5:p.Leu58Val | |
| ENST00000452863.10:c.172C>G MANE Select | ENSP00000415516.5:p.Leu58Val | |
| ENST00000639563.3:c.172C>G | ENSP00000492269.3:p.Leu58Val | |
| ENST00000332351.7:c.157C>G | ENSP00000331327.3:p.Leu53Val | |
| ENST00000379077.7:c.157C>G | ENSP00000368368.3:p.Leu53Val | |
| ENST00000448076.7:c.157C>G | ENSP00000413452.3:p.Leu53Val | |
| ENST00000452863.7:c.157C>G | ENSP00000415516.3:p.Leu53Val | |
| NM_000378.4:c.157C>G | NP_000369.3:p.Leu53Val | |
| NM_024424.3:c.157C>G | NP_077742.2:p.Leu53Val | |
| NM_024426.4:c.157C>G | NP_077744.3:p.Leu53Val | |
| NM_000378.5:c.172C>G | NP_000369.4:p.Leu58Val | |
| NM_024424.4:c.172C>G | NP_077742.3:p.Leu58Val | |
| NM_024426.5:c.172C>G | NP_077744.4:p.Leu58Val | |
| NR_160306.1:n.351C>G | ||
| NM_000378.6:c.172C>G | NP_000369.4:p.Leu58Val | |
| NM_024424.5:c.172C>G | NP_077742.3:p.Leu58Val | |
| NM_024426.6:c.172C>G MANE Select | NP_077744.4:p.Leu58Val |