gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97319438 (EAS)
Genomes Max Group AF
0.97319438 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.119339341C>T , CM000671.2:g.119339341C>T | GRCh38 |
| NC_000009.11:g.122101619C>T , CM000671.1:g.122101619C>T | GRCh37 |
| NC_000009.10:g.121141440C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265922.8:c.-50-25936G>A MANE Select | ENSP00000265922.2:n.-50-25936G>A | |
| ENST00000265922.7:c.-50-25936G>A | ENSP00000265922.2:n.-50-25936G>A | |
| ENST00000373964.2:c.-50-25936G>A | ENSP00000363075.1:n.-50-25936G>A | |
| NM_014618.2:c.-50-25936G>A | NP_055433.2:n.-50-25936G>A | |
| NM_014618.3:c.-50-25936G>A MANE Select | NP_055433.2:n.-50-25936G>A |