ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63964587C>G , CM000679.2:g.63964587C>G | GRCh38 |
| NC_000017.10:g.62041947C>G , CM000679.1:g.62041947C>G | GRCh37 |
| NC_000017.9:g.59395679C>G | NCBI36 |
| NG_011699.1:g.13332G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1333G>C MANE Select | ENSP00000396320.1:p.Val445Leu | |
| ENST00000578147.5:c.1333G>C | ENSP00000463963.1:p.Val445Leu | |
| NM_000334.4:c.1333G>C MANE Select | NP_000325.4:p.Val445Leu | |
| XM_005257566.3:c.1333G>C | XP_005257623.1:p.Val445Leu | |
| XR_934910.1:n.213C>G | ||
| XR_001752969.1:n.1490C>G | ||
| XR_001752970.1:n.442C>G | ||
| XR_934910.2:n.1365C>G |