gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12485539 (NFE)
Genomes Max Group AF
0.12485539 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95305261G>A , CM000669.2:g.95305261G>A | GRCh38 |
| NC_000007.13:g.94934573G>A , CM000669.1:g.94934573G>A | GRCh37 |
| NC_000007.12:g.94772509G>A | NCBI36 |
| NG_008779.1:g.24312C>T | |
| NG_008779.2:g.24446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.780+1024C>T MANE Select | ENSP00000222381.3:n.780+1024C>T | |
| ENST00000222381.7:c.780+1024C>T | ENSP00000222381.3:n.780+1024C>T | |
| ENST00000433729.1:c.*505+1024C>T | ENSP00000407359.1:n.*505+1024C>T | |
| NM_000446.5:c.780+1024C>T | NP_000437.3:n.780+1024C>T | |
| NM_000446.6:c.780+1024C>T | NP_000437.3:n.780+1024C>T | |
| NM_000446.7:c.780+1024C>T MANE Select | NP_000437.3:n.780+1024C>T |