gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45589843 (EAS)
Genomes Max Group AF
0.45589843 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54207424C>T , CM000663.2:g.54207424C>T | GRCh38 |
| NC_000001.10:g.54673097C>T , CM000663.1:g.54673097C>T | GRCh37 |
| NC_000001.9:g.54445685C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336230.10:c.256-2524C>T | ENSP00000338526.6:n.256-2524C>T | |
| ENST00000360840.9:c.646+2014C>T MANE Select | ENSP00000354086.5:n.646+2014C>T | |
| ENST00000487096.5:n.560+2014C>T | ||
| ENST00000490670.1:n.403C>T | ||
| ENST00000605337.5:c.646+2014C>T | ENSP00000473980.1:n.646+2014C>T | |
| NM_016491.3:c.646+2014C>T | NP_057575.2:n.646+2014C>T | |
| XM_005270920.2:c.646+2014C>T | XP_005270977.1:n.646+2014C>T | |
| NM_001330602.1:c.646+2014C>T | NP_001317531.1:n.646+2014C>T | |
| NM_016491.4:c.646+2014C>T MANE Select | NP_057575.2:n.646+2014C>T |