gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153684593C>T , CM000666.2:g.153684593C>T | GRCh38 |
| NC_000004.11:g.154605745C>T , CM000666.1:g.154605745C>T | GRCh37 |
| NC_000004.10:g.154825195C>T | NCBI36 |
| NG_016229.1:g.5305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643501.2:c.-373+233C>T | ENSP00000496208.2:n.-373+233C>T | |
| ENST00000646219.2:c.-447+233C>T | ENSP00000496676.2:n.-447+233C>T | |
| ENST00000646900.2:c.-148+233C>T | ENSP00000493968.2:n.-148+233C>T | |
| ENST00000642580.1:c.-89+233C>T | ENSP00000495339.1:n.-89+233C>T | |
| ENST00000642700.2:c.-163+233C>T MANE Select | ENSP00000494425.1:n.-163+233C>T | |
| ENST00000643501.1:c.-373+233C>T | ENSP00000496208.1:n.-373+233C>T | |
| ENST00000645889.1:n.71+233C>T | ||
| ENST00000646219.1:c.-447+233C>T | ENSP00000496676.1:n.-447+233C>T | |
| ENST00000646900.1:c.-148+233C>T | ENSP00000493968.1:n.-148+233C>T | |
| NM_003264.3:c.-148+233C>T | NP_003255.2:n.-148+233C>T | |
| XM_005263194.2:c.-163+233C>T | XP_005263251.1:n.-163+233C>T | |
| XM_005263195.2:c.-89+233C>T | XP_005263252.1:n.-89+233C>T | |
| XM_005263196.2:c.-129+233C>T | XP_005263253.1:n.-129+233C>T | |
| XM_005263197.2:c.-104+233C>T | XP_005263254.1:n.-104+233C>T | |
| XM_011532215.1:c.-70+233C>T | XP_011530517.1:n.-70+233C>T | |
| XM_011532216.1:c.-17+233C>T | XP_011530518.1:n.-17+233C>T | |
| NM_001318787.1:c.-373+233C>T | NP_001305716.1:n.-373+233C>T | |
| NM_001318789.1:c.-163+233C>T | NP_001305718.1:n.-163+233C>T | |
| NM_001318790.1:c.-163+256C>T | NP_001305719.1:n.-163+256C>T | |
| NM_001318791.1:c.-129+233C>T | NP_001305720.1:n.-129+233C>T | |
| NM_001318793.1:c.-148+256C>T | NP_001305722.1:n.-148+256C>T | |
| NM_001318795.1:c.-104+233C>T | NP_001305724.1:n.-104+233C>T | |
| NM_001318796.1:c.-89+233C>T | NP_001305725.1:n.-89+233C>T | |
| NM_003264.4:c.-148+233C>T | NP_003255.2:n.-148+233C>T | |
| XM_011532215.2:c.-70+233C>T | XP_011530517.1:n.-70+233C>T | |
| XM_011532216.2:c.-17+233C>T | XP_011530518.1:n.-17+233C>T | |
| XM_017008573.1:c.-447+233C>T | XP_016864062.1:n.-447+233C>T | |
| XM_017008574.1:c.-298+233C>T | XP_016864063.1:n.-298+233C>T | |
| XM_017008575.1:c.-342+233C>T | XP_016864064.1:n.-342+233C>T | |
| NM_001318787.2:c.-373+233C>T | NP_001305716.1:n.-373+233C>T | |
| NM_001318789.2:c.-163+233C>T MANE Select | NP_001305718.1:n.-163+233C>T | |
| NM_001318790.2:c.-163+256C>T | NP_001305719.1:n.-163+256C>T | |
| NM_001318791.2:c.-129+233C>T | NP_001305720.1:n.-129+233C>T | |
| NM_001318793.2:c.-148+256C>T | NP_001305722.1:n.-148+256C>T | |
| NM_001318795.2:c.-104+233C>T | NP_001305724.1:n.-104+233C>T | |
| NM_001318796.2:c.-89+233C>T | NP_001305725.1:n.-89+233C>T | |
| NM_003264.5:c.-148+233C>T | NP_003255.2:n.-148+233C>T |