gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63781951 (EAS)
Genomes Max Group AF
0.62709959 (EAS)
Exomes Max Group AF
0.63723034 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137088416C>T , CM000671.2:g.137088416C>T | GRCh38 |
| NC_000009.11:g.139982868C>T , CM000671.1:g.139982868C>T | GRCh37 |
| NC_000009.10:g.139102689C>T | NCBI36 |
| NG_031978.1:g.6490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371587.9:c.*30+18C>T | ENSP00000483132.2:n.*30+18C>T | |
| ENST00000475449.7:c.328+233C>T | ENSP00000448658.2:n.328+233C>T | |
| ENST00000535144.6:c.328+233C>T | ENSP00000441398.3:n.328+233C>T | |
| ENST00000542372.2:c.328+233C>T | ENSP00000444189.2:n.328+233C>T | |
| ENST00000544448.6:c.328+233C>T | ENSP00000444966.2:n.328+233C>T | |
| ENST00000545539.6:c.*233+233C>T | ENSP00000440314.2:n.*233+233C>T | |
| ENST00000682117.1:c.328+233C>T | ENSP00000507328.1:n.328+233C>T | |
| ENST00000682210.1:n.352+233C>T | ||
| ENST00000682212.1:c.328+233C>T | ENSP00000508217.1:n.328+233C>T | |
| ENST00000682425.1:n.578+18C>T | ||
| ENST00000682881.1:c.328+233C>T | ENSP00000506762.1:n.328+233C>T | |
| ENST00000683135.1:c.328+233C>T | ENSP00000507130.1:n.328+233C>T | |
| ENST00000683324.1:c.328+233C>T | ENSP00000507373.1:n.328+233C>T | |
| ENST00000683355.1:c.328+233C>T | ENSP00000508045.1:n.328+233C>T | |
| ENST00000683475.1:c.328+233C>T | ENSP00000507749.1:n.328+233C>T | |
| ENST00000683979.1:c.*30+18C>T | ENSP00000507362.1:n.*30+18C>T | |
| ENST00000683987.1:c.328+233C>T | ENSP00000507715.1:n.328+233C>T | |
| ENST00000684138.1:c.*30+18C>T | ENSP00000506755.1:n.*30+18C>T | |
| ENST00000684144.1:c.328+233C>T | ENSP00000508213.1:n.328+233C>T | |
| ENST00000684229.1:n.371+233C>T | ||
| ENST00000684272.1:c.*233+233C>T | ENSP00000506776.1:n.*233+233C>T | |
| ENST00000684297.1:c.328+233C>T | ENSP00000507160.1:n.328+233C>T | |
| ENST00000684366.1:c.328+233C>T | ENSP00000507668.1:n.328+233C>T | |
| ENST00000684645.1:n.348+233C>T | ||
| ENST00000684759.1:c.328+233C>T | ENSP00000507818.1:n.328+233C>T | |
| ENST00000371589.9:c.328+233C>T MANE Select | ENSP00000360645.4:n.328+233C>T | |
| ENST00000371587.8:c.378+18C>T | ENSP00000483132.1:n.378+18C>T | |
| ENST00000371589.8:c.328+233C>T | ENSP00000360645.4:n.328+233C>T | |
| ENST00000535144.5:c.220+233C>T | ENSP00000441398.2:n.220+233C>T | |
| ENST00000540346.2:n.318+233C>T | ||
| ENST00000542372.1:c.245+233C>T | ||
| ENST00000544448.5:c.328+233C>T | ENSP00000444966.2:n.328+233C>T | |
| ENST00000545096.1:n.477C>T | ||
| ENST00000545539.5:c.392+233C>T | ENSP00000440314.1:n.392+233C>T | |
| NM_016219.4:c.328+233C>T | NP_057303.2:n.328+233C>T | |
| NR_045720.1:n.401+233C>T | ||
| NR_045721.1:n.532+18C>T | ||
| XM_006716945.2:c.328+233C>T | XP_006717008.1:n.328+233C>T | |
| XM_006716945.4:c.328+233C>T | XP_006717008.1:n.328+233C>T | |
| XM_017014239.1:c.31+18C>T | XP_016869728.1:n.31+18C>T | |
| XM_024447403.1:c.328+233C>T | XP_024303171.1:n.328+233C>T | |
| XR_001746176.1:n.518+18C>T | ||
| NM_016219.5:c.328+233C>T MANE Select | NP_057303.2:n.328+233C>T | |
| NR_045720.2:n.343+233C>T | ||
| NR_045721.2:n.474+18C>T |