gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21719192G>T , CM000678.2:g.21719192G>T | GRCh38 |
| NC_000016.9:g.21730513G>T , CM000678.1:g.21730513G>T | GRCh37 |
| NC_000016.8:g.21638014G>T | NCBI36 |
| NG_012973.1:g.45679G>T | |
| NG_012973.2:g.60060G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.1688+1G>T | ENSP00000373610.3:n.1688+1G>T | |
| ENST00000646100.2:c.1688+1G>T MANE Select | ENSP00000496564.2:n.1688+1G>T | |
| ENST00000647277.1:c.*502+1G>T | ENSP00000495594.1:n.*502+1G>T | |
| ENST00000286149.8:c.1730+1G>T | ENSP00000286149.4:n.1730+1G>T | |
| ENST00000388956.8:c.1451+1G>T | ENSP00000373608.4:n.1451+1G>T | |
| ENST00000388957.3:c.716+1G>T | ENSP00000373609.3:n.716+1G>T | |
| ENST00000388958.7:c.1688+1G>T | ENSP00000373610.3:n.1688+1G>T | |
| ENST00000563871.5:n.909G>T | ||
| NM_001161683.1:c.1451+1G>T | NP_001155155.1:n.1451+1G>T | |
| NM_144672.3:c.1688+1G>T | NP_653273.3:n.1688+1G>T | |
| NM_170664.2:c.716+1G>T | NP_733764.1:n.716+1G>T | |
| XM_011545747.1:c.1688+1G>T | XP_011544049.1:n.1688+1G>T | |
| XM_011545748.1:c.557+1G>T | XP_011544050.1:n.557+1G>T | |
| NM_144672.4:c.1688+1G>T MANE Select | NP_653273.3:n.1688+1G>T | |
| XM_011545748.2:c.557+1G>T | XP_011544050.2:n.557+1G>T | |
| XM_017022951.1:c.-121G>T | XP_016878440.1:n.-121G>T | |
| XR_002957775.1:n.783+1G>T | ||
| NM_001161683.2:c.1451+1G>T | NP_001155155.1:n.1451+1G>T | |
| NM_170664.3:c.716+1G>T | NP_733764.1:n.716+1G>T |