gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09975072 (MID)
Genomes Max Group AF
0.09075539 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53200654C>T , CM000674.2:g.53200654C>T | GRCh38 |
| NC_000012.11:g.53594438C>T , CM000674.1:g.53594438C>T | GRCh37 |
| NC_000012.10:g.51880705C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267082.10:c.-3-208G>A MANE Select | ENSP00000267082.4:n.-3-208G>A | |
| ENST00000267082.9:c.-3-208G>A | ENSP00000267082.4:n.-3-208G>A | |
| ENST00000422257.7:c.-3-208G>A | ENSP00000408741.3:n.-3-208G>A | |
| ENST00000542497.5:c.-3-208G>A | ENSP00000437375.1:n.-3-208G>A | |
| ENST00000549086.2:c.-3-208G>A | ENSP00000446703.2:n.-3-208G>A | |
| ENST00000549462.1:n.51-208G>A | ||
| ENST00000552935.5:c.-3-208G>A | ENSP00000456305.1:n.-3-208G>A | |
| ENST00000552972.5:c.-3-208G>A | ENSP00000450366.1:n.-3-208G>A | |
| ENST00000589179.5:n.173+418G>A | ||
| NM_000889.2:c.-3-208G>A | NP_000880.1:n.-3-208G>A | |
| NR_104181.1:n.107-208G>A | ||
| XM_005268851.2:c.-3-208G>A | XP_005268908.1:n.-3-208G>A | |
| XM_005268852.3:c.-3-208G>A | XP_005268909.1:n.-3-208G>A | |
| XM_006719376.2:c.-3-208G>A | XP_006719439.1:n.-3-208G>A | |
| XR_429099.2:n.233-208G>A | ||
| XM_005268851.4:c.-3-208G>A | XP_005268908.1:n.-3-208G>A | |
| XM_005268852.5:c.-3-208G>A | XP_005268909.1:n.-3-208G>A | |
| XM_006719376.4:c.-3-208G>A | XP_006719439.1:n.-3-208G>A | |
| XR_001748685.2:n.297-208G>A | ||
| XR_429099.4:n.297-208G>A | ||
| NM_000889.3:c.-3-208G>A MANE Select | NP_000880.1:n.-3-208G>A | |
| NR_104181.2:n.51-208G>A |