gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36146101 (MID)
Genomes Max Group AF
0.3138113 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28835097T>C , CM000663.2:g.28835097T>C | GRCh38 |
| NC_000001.10:g.29161609T>C , CM000663.1:g.29161609T>C | GRCh37 |
| NC_000001.9:g.29034196T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234961.7:c.227+22487T>C MANE Select | ENSP00000234961.2:n.227+22487T>C | |
| ENST00000234961.6:c.227+22487T>C | ENSP00000234961.2:n.227+22487T>C | |
| ENST00000621425.1:c.227+22487T>C | ENSP00000477970.1:n.227+22487T>C | |
| NM_000911.3:c.227+22487T>C | NP_000902.3:n.227+22487T>C | |
| NM_000911.4:c.227+22487T>C MANE Select | NP_000902.3:n.227+22487T>C |