gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00114468 (AFR)
Genomes Max Group AF
0.00104373 (AFR)
Exomes Max Group AF
0.00108407 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406580C>A , CM000663.2:g.2406580C>A | GRCh38 |
| NC_000001.10:g.2338019C>A , CM000663.1:g.2338019C>A | GRCh37 |
| NC_000001.9:g.2327879C>A | NCBI36 |
| NG_008342.1:g.10992G>T | |
| NG_016128.1:g.19806C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.876G>T | ENSP00000288774.3:p.Leu292= | |
| ENST00000447513.7:c.816G>T MANE Select | ENSP00000407922.2:p.Leu272= | |
| ENST00000650293.1:c.770G>T | ||
| ENST00000288774.7:c.876G>T | ENSP00000288774.3:p.Leu292= | |
| ENST00000447513.6:c.816G>T | ENSP00000407922.2:p.Leu272= | |
| ENST00000507596.5:c.816G>T | ENSP00000424291.1:p.Leu272= | |
| ENST00000510434.1:c.*182G>T | ENSP00000423051.1:n.*182G>T | |
| NM_002617.3:c.816G>T | NP_002608.1:p.Leu272= | |
| NM_153818.1:c.876G>T | NP_722540.1:p.Leu292= | |
| XM_011541573.1:c.873G>T | XP_011539875.1:p.Leu291= | |
| XM_011541574.1:c.441G>T | XP_011539876.1:p.Leu147= | |
| XM_011541575.1:c.441G>T | XP_011539877.1:p.Leu147= | |
| XR_946666.1:n.932G>T | ||
| XR_946666.2:n.881G>T | ||
| NM_001374425.1:c.873G>T | NP_001361354.1:p.Leu291= | |
| NM_001374426.1:c.441G>T | NP_001361355.1:p.Leu147= | |
| NM_001374427.1:c.384G>T | NP_001361356.1:p.Leu128= | |
| NM_002617.4:c.816G>T MANE Select | NP_002608.1:p.Leu272= | |
| NM_153818.2:c.876G>T | NP_722540.1:p.Leu292= | |
| NR_164636.1:n.931G>T |