Linked Data
ClinVar Variation Id:
217436
ClinVar RCV Id:
RCV000207525
dbSNP Id:
rs869025207
gnomAD v4:
4-121847492-G-C
PubMed:
PMID:26518167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121847492G>C , CM000666.2:g.121847492G>C | GRCh38 |
| NC_000004.11:g.122768647G>C , CM000666.1:g.122768647G>C | GRCh37 |
| NC_000004.10:g.122988097G>C | NCBI36 |
| NG_009111.1:g.27996C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.949C>G MANE Select | ENSP00000264499.4:p.Leu317Val | |
| ENST00000264499.8:c.949C>G | ENSP00000264499.4:p.Leu317Val | |
| ENST00000506636.1:c.949C>G | ENSP00000423626.1:p.Leu317Val | |
| NM_018190.3:c.949C>G | NP_060660.2:p.Leu317Val | |
| NM_176824.2:c.949C>G | NP_789794.1:p.Leu317Val | |
| XM_005263106.2:c.952C>G | XP_005263163.1:p.Leu318Val | |
| XM_011532079.1:c.997C>G | XP_011530381.1:p.Leu333Val | |
| XM_011532080.1:c.994C>G | XP_011530382.1:p.Leu332Val | |
| XM_011532081.1:c.997C>G | XP_011530383.1:p.Leu333Val | |
| XM_005263106.4:c.952C>G | XP_005263163.1:p.Leu318Val | |
| XM_011532079.3:c.997C>G | XP_011530381.1:p.Leu333Val | |
| XM_011532080.3:c.994C>G | XP_011530382.1:p.Leu332Val | |
| XM_011532081.3:c.997C>G | XP_011530383.1:p.Leu333Val | |
| XM_017008357.2:c.949C>G | XP_016863846.1:p.Leu317Val | |
| XM_017008358.2:c.952C>G | XP_016863847.1:p.Leu318Val | |
| NM_176824.3:c.949C>G MANE Select | NP_789794.1:p.Leu317Val | |
| NM_018190.4:c.949C>G | NP_060660.2:p.Leu317Val |