Linked Data
ClinVar Variation Id:
96565
dbSNP Id:
rs398124563
ExAC:
6:81053399 C / G
gnomAD v2:
6-81053399-C-G
gnomAD v4:
6-80343682-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80343682C>G , CM000668.2:g.80343682C>G | GRCh38 |
| NC_000006.11:g.81053399C>G , CM000668.1:g.81053399C>G | GRCh37 |
| NC_000006.10:g.81110118C>G | NCBI36 |
| NG_009775.1:g.242056C>G | |
| NG_009775.2:g.242056C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.1057C>G MANE Select | ENSP00000318351.5:p.Leu353Val | |
| ENST00000320393.8:c.1057C>G | ENSP00000318351.5:p.Leu353Val | |
| ENST00000356489.9:c.1057C>G | ENSP00000348880.5:p.Leu353Val | |
| ENST00000491328.1:n.112C>G | ||
| NM_000056.3:c.1057C>G | NP_000047.1:p.Leu353Val | |
| NM_183050.2:c.1057C>G | NP_898871.1:p.Leu353Val | |
| XM_006715542.2:c.847C>G | XP_006715605.1:p.Leu283Val | |
| XM_011536024.1:c.*63C>G | XP_011534326.1:n.*63C>G | |
| XM_011536026.1:c.847C>G | XP_011534328.1:p.Leu283Val | |
| NM_000056.4:c.1057C>G | NP_000047.1:p.Leu353Val | |
| NM_001318975.1:c.847C>G | NP_001305904.1:p.Leu283Val | |
| NM_183050.3:c.1057C>G | NP_898871.1:p.Leu353Val | |
| NR_134945.1:n.1235C>G | ||
| XM_011536024.3:c.*63C>G | XP_011534326.1:n.*63C>G | |
| XR_001743546.2:n.1068+70461C>G | ||
| XR_001743547.2:n.1068+70461C>G | ||
| XR_001743548.2:n.1068+70461C>G | ||
| XR_001743549.2:n.1068+70461C>G | ||
| XR_002956292.1:n.1068+70461C>G | ||
| NM_183050.4:c.1057C>G MANE Select | NP_898871.1:p.Leu353Val | |
| NR_134945.2:n.1174C>G | ||
| NM_000056.5:c.1057C>G | NP_000047.1:p.Leu353Val |