gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005792 (NFE)
Genomes Max Group AF
0.00005844 (NFE)
Exomes Max Group AF
0.0000551 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109786757G>A , CM000674.2:g.109786757G>A | GRCh38 |
| NC_000012.11:g.110224562G>A , CM000674.1:g.110224562G>A | GRCh37 |
| NC_000012.10:g.108708945G>A | NCBI36 |
| NG_017090.1:g.51651C>T , LRG_372:g.51651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.2289C>T MANE Select | ENSP00000261740.2:p.Thr763= | |
| ENST00000418703.7:c.2289C>T | ENSP00000406191.2:p.Thr763= | |
| ENST00000674908.1:c.*1376C>T | ENSP00000502012.1:n.*1376C>T | |
| ENST00000675670.1:c.2289C>T | ENSP00000502135.1:p.Thr763= | |
| ENST00000261740.6:c.2289C>T | ENSP00000261740.2:p.Thr763= | |
| ENST00000418703.6:c.2289C>T | ENSP00000406191.2:p.Thr763= | |
| ENST00000536838.1:c.2187C>T | ENSP00000444336.1:p.Thr729= | |
| ENST00000537083.5:c.2109C>T | ENSP00000442738.1:p.Thr703= | |
| ENST00000538125.5:c.*672C>T | ENSP00000437449.1:n.*672C>T | |
| ENST00000541794.5:c.2148C>T | ENSP00000442167.1:p.Thr716= | |
| ENST00000544971.5:c.1968C>T | ENSP00000443611.1:p.Thr656= | |
| NM_001177428.1:c.2148C>T | NP_001170899.1:p.Thr716= | |
| NM_001177431.1:c.2187C>T | NP_001170902.1:p.Thr729= | |
| NM_001177433.1:c.1968C>T | NP_001170904.1:p.Thr656= | |
| NM_021625.4:c.2289C>T , LRG_372t1:c.2289C>T | NP_067638.3:p.Thr763= | |
| NM_147204.2:c.2109C>T | NP_671737.1:p.Thr703= | |
| XM_005253918.1:c.2289C>T | XP_005253975.1:p.Thr763= | |
| XM_011538630.1:c.2289C>T | XP_011536932.1:p.Thr763= | |
| XM_011538631.1:c.2148C>T | XP_011536933.1:p.Thr716= | |
| XM_011538632.1:c.2109C>T | XP_011536934.1:p.Thr703= | |
| XM_011538633.1:c.1968C>T | XP_011536935.1:p.Thr656= | |
| XM_011538630.2:c.2442C>T | XP_011536932.2:p.Thr814= | |
| XM_011538631.2:c.2301C>T | XP_011536933.2:p.Thr767= | |
| XM_011538632.2:c.2262C>T | XP_011536934.2:p.Thr754= | |
| XM_011538633.2:c.2121C>T | XP_011536935.2:p.Thr707= | |
| XM_017019774.1:c.2289C>T | XP_016875263.1:p.Thr763= | |
| NM_021625.5:c.2289C>T MANE Select | NP_067638.3:p.Thr763= |