gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54299532 (NFE)
Genomes Max Group AF
0.54299532 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69488398G>A , CM000671.2:g.69488398G>A | GRCh38 |
| NC_000009.11:g.72103314G>A , CM000671.1:g.72103314G>A | GRCh37 |
| NC_000009.10:g.71293134G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699288.1:c.45+6940C>T | ENSP00000514269.1:n.45+6940C>T | |
| ENST00000265381.7:c.1201-12255C>T MANE Select | ENSP00000265381.3:n.1201-12255C>T | |
| ENST00000265381.6:c.1201-12255C>T | ENSP00000265381.3:n.1201-12255C>T | |
| NM_001163.3:c.1201-12255C>T | NP_001154.2:n.1201-12255C>T | |
| XM_005251968.2:c.1201-12255C>T | XP_005252025.1:n.1201-12255C>T | |
| XM_006717093.2:c.1201-12255C>T | XP_006717156.1:n.1201-12255C>T | |
| XM_011518617.1:c.1201-12255C>T | XP_011516919.1:n.1201-12255C>T | |
| XM_005251968.3:c.1201-12255C>T | XP_005252025.1:n.1201-12255C>T | |
| XM_011518617.2:c.1201-12255C>T | XP_011516919.1:n.1201-12255C>T | |
| XM_017014670.1:c.1201-12255C>T | XP_016870159.1:n.1201-12255C>T | |
| NM_001163.4:c.1201-12255C>T MANE Select | NP_001154.2:n.1201-12255C>T |