gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47140014 (EAS)
Genomes Max Group AF
0.47140014 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183112059A>C , CM000663.2:g.183112059A>C | GRCh38 |
| NC_000001.10:g.183081194A>C , CM000663.1:g.183081194A>C | GRCh37 |
| NC_000001.9:g.181347817A>C | NCBI36 |
| NG_011463.1:g.93600A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258341.5:c.1021+1405A>C MANE Select | ENSP00000258341.3:n.1021+1405A>C | |
| ENST00000258341.4:c.1021+1405A>C | ENSP00000258341.3:n.1021+1405A>C | |
| ENST00000479499.1:n.74+1405A>C | ||
| NM_002293.3:c.1021+1405A>C | NP_002284.3:n.1021+1405A>C | |
| NM_002293.4:c.1021+1405A>C MANE Select | NP_002284.3:n.1021+1405A>C |