gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66988061 (EAS)
Genomes Max Group AF
0.66988061 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117279924G>A , CM000669.2:g.117279924G>A | GRCh38 |
| NC_000007.13:g.116919978G>A , CM000669.1:g.116919978G>A | GRCh37 |
| NC_000007.12:g.116707214G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265441.8:c.854-1540C>T MANE Select | ENSP00000265441.3:n.854-1540C>T | |
| ENST00000647844.1:c.*769-1540C>T | ENSP00000497695.1:n.*769-1540C>T | |
| ENST00000265441.7:c.854-1540C>T | ENSP00000265441.3:n.854-1540C>T | |
| ENST00000449446.5:c.*457-1540C>T | ENSP00000389643.1:n.*457-1540C>T | |
| NM_003391.2:c.854-1540C>T | NP_003382.1:n.854-1540C>T | |
| NR_024047.1:n.1090-1540C>T | ||
| NM_003391.3:c.854-1540C>T MANE Select | NP_003382.1:n.854-1540C>T | |
| NR_024047.2:n.859-1540C>T |