gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00109633 (AFR)
Genomes Max Group AF
0.00097939 (AFR)
Exomes Max Group AF
0.00106038 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406731C>T , CM000663.2:g.2406731C>T | GRCh38 |
| NC_000001.10:g.2338170C>T , CM000663.1:g.2338170C>T | GRCh37 |
| NC_000001.9:g.2328030C>T | NCBI36 |
| NG_008342.1:g.10841G>A | |
| NG_016128.1:g.19957C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.825G>A | ENSP00000288774.3:p.Leu275= | |
| ENST00000447513.7:c.765G>A MANE Select | ENSP00000407922.2:p.Leu255= | |
| ENST00000650293.1:c.719G>A | ||
| ENST00000288774.7:c.825G>A | ENSP00000288774.3:p.Leu275= | |
| ENST00000447513.6:c.765G>A | ENSP00000407922.2:p.Leu255= | |
| ENST00000507596.5:c.765G>A | ENSP00000424291.1:p.Leu255= | |
| ENST00000510434.1:c.*131G>A | ENSP00000423051.1:n.*131G>A | |
| NM_002617.3:c.765G>A | NP_002608.1:p.Leu255= | |
| NM_153818.1:c.825G>A | NP_722540.1:p.Leu275= | |
| XM_011541573.1:c.822G>A | XP_011539875.1:p.Leu274= | |
| XM_011541574.1:c.390G>A | XP_011539876.1:p.Leu130= | |
| XM_011541575.1:c.390G>A | XP_011539877.1:p.Leu130= | |
| XR_946666.1:n.881G>A | ||
| XR_946666.2:n.830G>A | ||
| NM_001374425.1:c.822G>A | NP_001361354.1:p.Leu274= | |
| NM_001374426.1:c.390G>A | NP_001361355.1:p.Leu130= | |
| NM_001374427.1:c.333G>A | NP_001361356.1:p.Leu111= | |
| NM_002617.4:c.765G>A MANE Select | NP_002608.1:p.Leu255= | |
| NM_153818.2:c.825G>A | NP_722540.1:p.Leu275= | |
| NR_164636.1:n.880G>A |