gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000879 (NFE)
Exomes Max Group AF
0.00000933 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36289294G>A , CM000684.2:g.36289294G>A | GRCh38 |
| NC_000022.10:g.36685340G>A , CM000684.1:g.36685340G>A | GRCh37 |
| NC_000022.9:g.35015286G>A | NCBI36 |
| NG_011884.2:g.103725C>T , LRG_567:g.103725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.4411C>T | ENSP00000510688.1:p.Leu1471= | |
| ENST00000691109.1:n.4643C>T | ||
| ENST00000216181.11:c.4348C>T MANE Select | ENSP00000216181.6:p.Leu1450= | |
| ENST00000216181.9:c.4348C>T | ENSP00000216181.5:p.Leu1450= | |
| NM_002473.5:c.4348C>T , LRG_567t1:c.4348C>T | NP_002464.1:p.Leu1450= | |
| XM_011530197.1:c.4348C>T | XP_011528499.1:p.Leu1450= | |
| XM_011530197.2:c.4348C>T | XP_011528499.1:p.Leu1450= | |
| XM_017028803.1:c.4348C>T | XP_016884292.1:p.Leu1450= | |
| XM_017028804.1:c.4348C>T | XP_016884293.1:p.Leu1450= | |
| XM_017028805.1:c.4348C>T | XP_016884294.1:p.Leu1450= | |
| XM_017028806.1:c.4348C>T | XP_016884295.1:p.Leu1450= | |
| NM_002473.6:c.4348C>T MANE Select | NP_002464.1:p.Leu1450= |