gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8993948 (EAS)
Genomes Max Group AF
0.8993948 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67131436G>A , CM000663.2:g.67131436G>A | GRCh38 |
| NC_000001.10:g.67597119G>A , CM000663.1:g.67597119G>A | GRCh37 |
| NC_000001.9:g.67369707G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684719.1:c.-103-209C>T MANE Select | ENSP00000507487.1:n.-103-209C>T | |
| ENST00000371004.6:n.42-209C>T | ||
| ENST00000371007.6:c.-103-209C>T | ENSP00000360046.1:n.-103-209C>T | |
| ENST00000448166.6:c.-103-209C>T | ENSP00000415519.2:n.-103-209C>T | |
| ENST00000544837.5:c.-103-209C>T | ENSP00000444018.2:n.-103-209C>T | |
| ENST00000603691.1:c.-103-209C>T | ENSP00000474902.1:n.-103-209C>T | |
| NM_001276351.1:c.-103-209C>T | NP_001263280.1:n.-103-209C>T | |
| NM_001276352.1:c.-103-209C>T | NP_001263281.1:n.-103-209C>T | |
| NR_075077.1:n.43-209C>T | ||
| XM_011541464.1:c.-103-209C>T | XP_011539766.1:n.-103-209C>T | |
| XM_011541465.1:c.-18+3494C>T | XP_011539767.1:n.-18+3494C>T | |
| XM_011541466.1:c.-17-4179C>T | XP_011539768.1:n.-17-4179C>T | |
| XM_011541471.1:c.-103-209C>T | XP_011539773.1:n.-103-209C>T | |
| XM_011541465.2:c.-18+3494C>T | XP_011539767.1:n.-18+3494C>T | |
| XM_011541466.2:c.-17-4179C>T | XP_011539768.1:n.-17-4179C>T | |
| NM_001276351.2:c.-103-209C>T MANE Select | NP_001263280.1:n.-103-209C>T | |
| NM_001276352.2:c.-103-209C>T | NP_001263281.1:n.-103-209C>T | |
| NR_075077.2:n.42-209C>T |