ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00294423 (SAS)
Genomes Max Group AF
0.00214293 (AMR)
Exomes Max Group AF
0.00301074 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091311C>T , CM000673.2:g.4091311C>T | GRCh38 |
| NC_000011.9:g.4112541C>T , CM000673.1:g.4112541C>T | GRCh37 |
| NC_000011.8:g.4069117C>T | NCBI36 |
| NG_016277.1:g.240609C>T , LRG_164:g.240609C>T | |
| NG_027992.2:g.1618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.1386C>T | ENSP00000432210.2:p.Leu462= | |
| ENST00000698910.1:c.1082C>T | ENSP00000514024.1:p.Ser361Phe | |
| ENST00000698911.1:c.1667C>T | ENSP00000514025.1:p.Ser556Phe | |
| ENST00000698912.1:c.1386C>T | ENSP00000514026.1:p.Leu462= | |
| ENST00000698913.1:c.1349C>T | ENSP00000514027.1:p.Ser450Phe | |
| ENST00000698915.1:c.1655C>T | ENSP00000514029.1:p.Ser552Phe | |
| ENST00000698916.1:c.1592C>T | ENSP00000514030.1:p.Ser531Phe | |
| ENST00000698918.1:c.*1309C>T | ENSP00000514031.1:n.*1309C>T | |
| ENST00000698919.1:c.*504C>T | ENSP00000514032.1:n.*504C>T | |
| ENST00000698920.1:n.871C>T | ||
| ENST00000526596.2:c.1664C>T MANE Select | ENSP00000433266.2:p.Ser555Phe | |
| ENST00000300737.8:c.1571C>T | ENSP00000300737.4:p.Ser524Phe | |
| ENST00000526156.1:n.369C>T | ||
| ENST00000526596.1:c.856C>T | ||
| ENST00000527651.5:c.1608C>T | ENSP00000436208.1:p.Leu536= | |
| ENST00000531332.1:n.439C>T | ||
| ENST00000533977.5:c.1052C>T | ENSP00000434767.1:p.Ser351Phe | |
| ENST00000616714.4:c.1889C>T | ENSP00000478059.1:p.Ser630Phe | |
| NM_001277961.1:c.1889C>T | NP_001264890.1:p.Ser630Phe | |
| NM_001277962.1:c.1608C>T | NP_001264891.1:p.Leu536= | |
| NM_003156.3:c.1571C>T , LRG_164t1:c.1571C>T | NP_003147.2:p.Ser524Phe | |
| NM_001277962.2:c.1608C>T | NP_001264891.1:p.Leu536= | |
| NM_001277961.3:c.1889C>T | NP_001264890.1:p.Ser630Phe | |
| NM_001382566.1:c.1667C>T | NP_001369495.1:p.Ser556Phe | |
| NM_001382567.1:c.1664C>T MANE Select | NP_001369496.1:p.Ser555Phe | |
| NM_001382568.1:c.1592C>T | NP_001369497.1:p.Ser531Phe | |
| NM_001382569.1:c.1436C>T | NP_001369498.1:p.Ser479Phe | |
| NM_001382570.1:c.1343C>T | NP_001369499.1:p.Ser448Phe | |
| NM_001382571.1:c.1091C>T | NP_001369500.1:p.Ser364Phe | |
| NM_001382575.1:c.1349C>T | NP_001369504.1:p.Ser450Phe | |
| NM_001382576.1:c.1349C>T | NP_001369505.1:p.Ser450Phe | |
| NM_001382577.1:c.1349C>T | NP_001369506.1:p.Ser450Phe | |
| NM_001382578.1:c.1386C>T | NP_001369507.1:p.Leu462= | |
| NM_001382579.1:c.1386C>T | NP_001369508.1:p.Leu462= | |
| NM_001382580.1:c.1119C>T | NP_001369509.1:p.Leu373= | |
| NM_001382581.1:c.1082C>T | NP_001369510.1:p.Ser361Phe | |
| NM_003156.4:c.1571C>T | NP_003147.2:p.Ser524Phe | |
| NR_168436.1:n.1495C>T | ||
| NR_168437.1:n.2000C>T | ||
| NR_168438.1:n.1822C>T |