ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11245401 (AFR)
Genomes Max Group AF
0.10963656 (AFR)
Exomes Max Group AF
0.11409681 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118738363G>A , CM000666.2:g.118738363G>A | GRCh38 |
| NC_000004.11:g.119659518G>A , CM000666.1:g.119659518G>A | GRCh37 |
| NC_000004.10:g.119878966G>A | NCBI36 |
| NG_042032.1:g.102809C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.2394C>T MANE Select | ENSP00000280551.6:p.Leu798= | |
| ENST00000280551.10:c.2394C>T | ENSP00000280551.6:p.Leu798= | |
| ENST00000419654.6:c.1062C>T | ENSP00000388324.2:p.Leu354= | |
| ENST00000502526.1:n.92C>T | ||
| ENST00000505134.5:n.1682C>T | ||
| ENST00000511481.5:c.1287C>T | ENSP00000425491.1:p.Leu429= | |
| ENST00000514561.5:c.*2801C>T | ENSP00000422717.1:n.*2801C>T | |
| NM_014822.2:c.2394C>T | NP_055637.2:p.Leu798= | |
| XM_005263378.1:c.2397C>T | XP_005263435.1:p.Leu799= | |
| XM_005263379.1:c.2397C>T | XP_005263436.1:p.Leu799= | |
| XM_011532435.1:c.2397C>T | XP_011530737.1:p.Leu799= | |
| XM_011532436.1:c.2397C>T | XP_011530738.1:p.Leu799= | |
| XM_011532437.1:c.1062C>T | XP_011530739.1:p.Leu354= | |
| NM_001318066.1:c.2397C>T | NP_001304995.1:p.Leu799= | |
| NM_014822.3:c.2394C>T | NP_055637.2:p.Leu798= | |
| XM_005263379.3:c.2397C>T | XP_005263436.1:p.Leu799= | |
| XM_017008875.1:c.1062C>T | XP_016864364.1:p.Leu354= | |
| XM_024454293.1:c.2394C>T | XP_024310061.1:p.Leu798= | |
| NM_014822.4:c.2394C>T MANE Select | NP_055637.2:p.Leu798= | |
| NM_001318066.2:c.2397C>T | NP_001304995.1:p.Leu799= |