gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01981206 (SAS)
Genomes Max Group AF
0.01765356 (SAS)
Exomes Max Group AF
0.01976277 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16177793T>C , CM000670.2:g.16177793T>C | GRCh38 |
| NC_000008.10:g.16035302T>C , CM000670.1:g.16035302T>C | GRCh37 |
| NC_000008.9:g.16079673T>C | NCBI36 |
| NG_012102.1:g.19999A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262101.10:c.103+93A>G MANE Select | ENSP00000262101.5:n.103+93A>G | |
| ENST00000262101.9:c.103+93A>G | ENSP00000262101.5:n.103+93A>G | |
| ENST00000350896.3:c.103+93A>G | ENSP00000262100.3:n.103+93A>G | |
| ENST00000355282.6:c.103+93A>G | ENSP00000347430.2:n.103+93A>G | |
| ENST00000381998.8:c.103+93A>G | ENSP00000371428.4:n.103+93A>G | |
| ENST00000445506.6:c.157+93A>G | ENSP00000405453.2:n.157+93A>G | |
| ENST00000518026.5:c.136+93A>G | ENSP00000429498.1:n.136+93A>G | |
| ENST00000518960.5:c.103+93A>G | ENSP00000427905.1:n.103+93A>G | |
| ENST00000519060.6:c.103+93A>G | ENSP00000428865.1:n.103+93A>G | |
| NM_002445.3:c.103+93A>G | NP_002436.1:n.103+93A>G | |
| NM_138715.2:c.103+93A>G | NP_619729.1:n.103+93A>G | |
| NM_138716.2:c.103+93A>G | NP_619730.1:n.103+93A>G | |
| NM_001363744.1:c.157+93A>G | NP_001350673.1:n.157+93A>G | |
| XM_024447161.1:c.157+93A>G | XP_024302929.1:n.157+93A>G | |
| NM_138715.3:c.103+93A>G MANE Select | NP_619729.1:n.103+93A>G | |
| NM_002445.4:c.103+93A>G | NP_002436.1:n.103+93A>G | |
| NM_138716.3:c.103+93A>G | NP_619730.1:n.103+93A>G |