gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001962 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001914 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79487601T>C , CM000668.2:g.79487601T>C | GRCh38 |
| NC_000006.11:g.80197318T>C , CM000668.1:g.80197318T>C | GRCh37 |
| NC_000006.10:g.80254037T>C | NCBI36 |
| NG_016011.1:g.54830A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.1497A>G MANE Select | ENSP00000358861.4:p.Leu499= | |
| ENST00000369846.8:c.1497A>G | ENSP00000358861.4:p.Leu499= | |
| ENST00000392959.5:c.1497A>G | ENSP00000376686.1:p.Leu499= | |
| NM_001122769.2:c.1497A>G | NP_001116241.1:p.Leu499= | |
| NM_181714.3:c.1497A>G | NP_859065.2:p.Leu499= | |
| XM_005248665.3:c.1497A>G | XP_005248722.1:p.Leu499= | |
| XM_011535504.1:c.1497A>G | XP_011533806.1:p.Leu499= | |
| XR_942715.1:n.544-832T>C | ||
| XR_942716.1:n.506-832T>C | ||
| XR_942717.1:n.778-832T>C | ||
| XM_005248665.4:c.1497A>G | XP_005248722.1:p.Leu499= | |
| XR_001744213.1:n.2169-832T>C | ||
| XR_001744214.1:n.2131-832T>C | ||
| NM_001122769.3:c.1497A>G MANE Select | NP_001116241.1:p.Leu499= | |
| NM_181714.4:c.1497A>G | NP_859065.2:p.Leu499= |