gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00222541 (AFR)
Genomes Max Group AF
0.00217958 (AFR)
Exomes Max Group AF
0.00202192 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78885648G>A , CM000667.2:g.78885648G>A | GRCh38 |
| NC_000005.9:g.78181471G>A , CM000667.1:g.78181471G>A | GRCh37 |
| NC_000005.8:g.78217227G>A | NCBI36 |
| NG_007089.1:g.105887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1078C>T MANE Select | ENSP00000264914.4:p.Leu360= | |
| ENST00000521800.2:n.260C>T | ||
| ENST00000565165.2:c.1078C>T | ENSP00000456339.2:p.Leu360= | |
| ENST00000264914.8:c.1078C>T | ENSP00000264914.4:p.Leu360= | |
| ENST00000396151.7:c.1078C>T | ENSP00000379455.3:p.Leu360= | |
| ENST00000521800.1:n.183C>T | ||
| ENST00000565165.1:c.1078C>T | ENSP00000456339.1:p.Leu360= | |
| NM_000046.3:c.1078C>T | NP_000037.2:p.Leu360= | |
| NM_198709.2:c.1078C>T | NP_942002.1:p.Leu360= | |
| XM_005248506.3:c.1078C>T | XP_005248563.1:p.Leu360= | |
| XM_011543390.1:c.1078C>T | XP_011541692.1:p.Leu360= | |
| XM_011543391.1:c.1078C>T | XP_011541693.1:p.Leu360= | |
| XM_011543392.1:c.1078C>T | XP_011541694.1:p.Leu360= | |
| XM_011543393.1:c.1078C>T | XP_011541695.1:p.Leu360= | |
| NM_000046.4:c.1078C>T | NP_000037.2:p.Leu360= | |
| XM_011543391.3:c.1078C>T | XP_011541693.1:p.Leu360= | |
| XM_011543392.3:c.1078C>T | XP_011541694.1:p.Leu360= | |
| XM_011543393.2:c.1078C>T | XP_011541695.1:p.Leu360= | |
| XM_017009471.2:c.1078C>T | XP_016864960.1:p.Leu360= | |
| XR_001742065.2:n.1149C>T | ||
| XR_001742066.2:n.1149C>T | ||
| NM_000046.5:c.1078C>T MANE Select | NP_000037.2:p.Leu360= | |
| NM_198709.3:c.1078C>T | NP_942002.1:p.Leu360= |