gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012936 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.0001348 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13865685G>C , CM000667.2:g.13865685G>C | GRCh38 |
| NC_000005.9:g.13865794G>C , CM000667.1:g.13865794G>C | GRCh37 |
| NC_000005.8:g.13918794G>C | NCBI36 |
| NG_013081.1:g.83796C>G | |
| NG_013081.2:g.83796C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.4338C>G MANE Select | ENSP00000265104.4:p.Leu1446= | |
| ENST00000681290.1:c.4293C>G | ENSP00000505288.1:p.Leu1431= | |
| ENST00000265104.4:c.4338C>G | ENSP00000265104.4:p.Leu1446= | |
| NM_001369.2:c.4338C>G | NP_001360.1:p.Leu1446= | |
| XM_005248262.2:c.4293C>G | XP_005248319.1:p.Leu1431= | |
| XM_011513990.1:c.4338C>G | XP_011512292.1:p.Leu1446= | |
| XR_925598.1:n.4545C>G | ||
| XM_005248262.3:c.4446C>G | XP_005248319.2:p.Leu1482= | |
| XM_017009177.1:c.4446C>G | XP_016864666.1:p.Leu1482= | |
| XM_017009178.1:c.3351C>G | XP_016864667.1:p.Leu1117= | |
| XM_017009179.2:c.3351C>G | XP_016864668.1:p.Leu1117= | |
| XM_017009180.1:c.4446C>G | XP_016864669.1:p.Leu1482= | |
| XM_017009181.1:c.4446C>G | XP_016864670.1:p.Leu1482= | |
| XM_017009182.1:c.4446C>G | XP_016864671.1:p.Leu1482= | |
| XM_017009183.1:c.4446C>G | XP_016864672.1:p.Leu1482= | |
| XM_017009184.1:c.4446C>G | XP_016864673.1:p.Leu1482= | |
| XM_017009187.1:c.4446C>G | XP_016864676.1:p.Leu1482= | |
| XM_024454388.1:c.3351C>G | XP_024310156.1:p.Leu1117= | |
| XM_024454389.1:c.2940C>G | XP_024310157.1:p.Leu980= | |
| XR_001742034.1:n.4463C>G | ||
| XR_001742035.1:n.4463C>G | ||
| NM_001369.3:c.4338C>G MANE Select | NP_001360.1:p.Leu1446= |