gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008507 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00008587 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149898474T>C , CM000667.2:g.149898474T>C | GRCh38 |
| NC_000005.9:g.149278037T>C , CM000667.1:g.149278037T>C | GRCh37 |
| NC_000005.8:g.149258230T>C | NCBI36 |
| NG_009102.1:g.51320A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.1296A>G MANE Select | ENSP00000255266.5:p.Leu432= | |
| ENST00000255266.9:c.1296A>G | ENSP00000255266.5:p.Leu432= | |
| ENST00000508173.5:n.1383+901A>G | ||
| ENST00000613228.1:c.1053A>G | ENSP00000478060.1:p.Leu351= | |
| ENST00000617647.4:c.1053A>G | ENSP00000482774.1:p.Leu351= | |
| NM_000440.2:c.1296A>G | NP_000431.2:p.Leu432= | |
| XM_011537648.1:c.1296A>G | XP_011535950.1:p.Leu432= | |
| XM_011537649.1:c.750A>G | XP_011535951.1:p.Leu250= | |
| XM_011537650.1:c.411A>G | XP_011535952.1:p.Leu137= | |
| XM_011537651.1:c.249A>G | XP_011535953.1:p.Leu83= | |
| XM_011537652.1:c.219A>G | XP_011535954.1:p.Leu73= | |
| XM_011537653.1:c.219A>G | XP_011535955.1:p.Leu73= | |
| XM_011537654.1:c.219A>G | XP_011535956.1:p.Leu73= | |
| XM_011537650.2:c.411A>G | XP_011535952.1:p.Leu137= | |
| XM_011537651.2:c.249A>G | XP_011535953.1:p.Leu83= | |
| XM_011537653.2:c.219A>G | XP_011535955.1:p.Leu73= | |
| XM_011537654.2:c.219A>G | XP_011535956.1:p.Leu73= | |
| XM_017009572.2:c.1053A>G | XP_016865061.1:p.Leu351= | |
| NM_000440.3:c.1296A>G MANE Select | NP_000431.2:p.Leu432= |