ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005818 (MID)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294657G>A , CM000663.2:g.155294657G>A | GRCh38 |
| NC_000001.10:g.155264448G>A , CM000663.1:g.155264448G>A | GRCh37 |
| NC_000001.9:g.153531072G>A | NCBI36 |
| NG_011677.1:g.11778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.790C>T MANE Select | ENSP00000339933.4:p.Leu264= | |
| ENST00000342741.4:c.790C>T | ENSP00000339933.4:p.Leu264= | |
| ENST00000392414.7:c.697C>T | ENSP00000376214.3:p.Leu233= | |
| NM_000298.5:c.790C>T | NP_000289.1:p.Leu264= | |
| NM_181871.3:c.697C>T | NP_870986.1:p.Leu233= | |
| XM_005245266.3:c.949C>T | XP_005245323.1:p.Leu317= | |
| XM_006711386.2:c.598C>T | XP_006711449.1:p.Leu200= | |
| XM_011509639.1:c.949C>T | XP_011507941.1:p.Leu317= | |
| XM_011509640.1:c.598C>T | XP_011507942.1:p.Leu200= | |
| NM_000298.6:c.790C>T MANE Select | NP_000289.1:p.Leu264= | |
| XM_006711386.4:c.598C>T | XP_006711449.1:p.Leu200= | |
| XM_011509640.3:c.598C>T | XP_011507942.1:p.Leu200= | |
| XM_017001493.1:c.790C>T | XP_016856982.1:p.Leu264= | |
| NM_181871.4:c.697C>T | NP_870986.1:p.Leu233= |