gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48340956C>T , CM000677.2:g.48340956C>T | GRCh38 |
| NC_000015.9:g.48633153C>T , CM000677.1:g.48633153C>T | GRCh37 |
| NC_000015.8:g.46420445C>T | NCBI36 |
| NG_029497.1:g.14533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331200.8:c.557-333C>T MANE Select | ENSP00000370376.2:n.557-333C>T | |
| ENST00000331200.7:c.557-333C>T | ENSP00000370376.2:n.557-333C>T | |
| ENST00000455976.6:c.293-333C>T | ENSP00000405160.2:n.293-333C>T | |
| ENST00000558367.1:c.164-333C>T | ENSP00000453683.1:n.164-333C>T | |
| ENST00000558472.5:c.488-333C>T | ENSP00000452749.1:n.488-333C>T | |
| ENST00000558813.5:c.224-333C>T | ENSP00000453717.1:n.224-333C>T | |
| ENST00000558978.5:c.557-333C>T | ENSP00000452814.1:n.557-333C>T | |
| ENST00000559416.5:c.302-333C>T | ENSP00000454183.1:n.302-333C>T | |
| ENST00000559540.5:c.293-333C>T | ENSP00000454041.1:n.293-333C>T | |
| ENST00000559935.5:c.302-333C>T | ENSP00000453667.1:n.302-333C>T | |
| NM_001025248.1:c.557-333C>T | NP_001020419.1:n.557-333C>T | |
| NM_001025249.1:c.224-333C>T | NP_001020420.1:n.224-333C>T | |
| NM_001948.3:c.293-333C>T | NP_001939.1:n.293-333C>T | |
| XM_011521315.1:c.302-333C>T | XP_011519617.1:n.302-333C>T | |
| XR_931760.1:n.635-333C>T | ||
| NM_001330286.1:c.302-333C>T | NP_001317215.1:n.302-333C>T | |
| XR_001751125.2:n.1478-333C>T | ||
| NM_001025248.2:c.557-333C>T MANE Select | NP_001020419.1:n.557-333C>T | |
| NM_001330286.2:c.302-333C>T | NP_001317215.1:n.302-333C>T | |
| NM_001948.4:c.293-333C>T | NP_001939.1:n.293-333C>T |