gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00084359 (NFE)
Genomes Max Group AF
0.00068965 (NFE)
Exomes Max Group AF
0.00084342 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136898213T>A , CM000668.2:g.136898213T>A | GRCh38 |
| NC_000006.11:g.137219351T>A , CM000668.1:g.137219351T>A | GRCh37 |
| NC_000006.10:g.137261044T>A | NCBI36 |
| NG_008462.1:g.80634T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.875T>A MANE Select | ENSP00000315680.3:p.Leu292Ter | |
| ENST00000541292.6:c.*140T>A | ENSP00000441004.1:n.*140T>A | |
| ENST00000678002.1:c.563T>A | ||
| ENST00000678557.1:c.761T>A | ENSP00000502962.1:p.Leu254Ter | |
| ENST00000679286.1:c.755T>A | ENSP00000503168.1:p.Leu252Ter | |
| ENST00000318471.4:c.875T>A | ENSP00000315680.3:p.Leu292Ter | |
| NM_000288.3:c.875T>A | NP_000279.1:p.Leu292Ter | |
| XM_005267019.3:c.761T>A | XP_005267076.1:p.Leu254Ter | |
| XM_006715502.1:c.581T>A | XP_006715565.1:p.Leu194Ter | |
| XM_011535900.1:c.598T>A | XP_011534202.1:p.Ter200Lys | |
| XM_005267019.4:c.761T>A | XP_005267076.1:p.Leu254Ter | |
| XM_006715502.2:c.581T>A | XP_006715565.1:p.Leu194Ter | |
| XM_017010934.2:c.598T>A | XP_016866423.1:p.Ter200Lys | |
| NM_000288.4:c.875T>A MANE Select | NP_000279.1:p.Leu292Ter |