gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49820583 (EAS)
Genomes Max Group AF
0.49820583 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21585386G>T , CM000684.2:g.21585386G>T | GRCh38 |
| NC_000022.10:g.21939675G>T , CM000684.1:g.21939675G>T | GRCh37 |
| NC_000022.9:g.20269675G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696046.1:c.28-7475G>T | ENSP00000512350.1:n.28-7475G>T | |
| ENST00000342192.9:c.28-7475G>T MANE Select | ENSP00000344259.5:n.28-7475G>T | |
| ENST00000342192.8:c.28-7475G>T | ENSP00000344259.4:n.28-7475G>T | |
| ENST00000458578.6:c.202-7475G>T | ENSP00000400906.2:n.202-7475G>T | |
| ENST00000496722.1:n.649-7475G>T | ||
| ENST00000545681.2:c.27+17615G>T | ENSP00000445931.1:n.27+17615G>T | |
| NM_001256355.1:c.202-7475G>T | NP_001243284.1:n.202-7475G>T | |
| NM_001256356.1:c.27+17615G>T | NP_001243285.1:n.27+17615G>T | |
| NM_003347.3:c.28-7475G>T | NP_003338.1:n.28-7475G>T | |
| NR_028436.2:n.226-7475G>T | ||
| NR_046082.1:n.649-7475G>T | ||
| XM_017028935.2:c.28-7475G>T | XP_016884424.1:n.28-7475G>T | |
| NM_003347.4:c.28-7475G>T MANE Select | NP_003338.1:n.28-7475G>T | |
| NR_028436.3:n.59-7475G>T | ||
| NR_046082.2:n.665-7475G>T | ||
| NM_001256356.2:c.27+17615G>T | NP_001243285.1:n.27+17615G>T |