gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40337523 (AFR)
Genomes Max Group AF
0.40337523 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149814922C>T , CM000667.2:g.149814922C>T | GRCh38 |
| NC_000005.9:g.149194485C>T , CM000667.1:g.149194485C>T | GRCh37 |
| NC_000005.8:g.149174678C>T | NCBI36 |
| NG_016747.1:g.89671C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309241.10:c.79-5511C>T MANE Select | ENSP00000312649.5:n.79-5511C>T | |
| ENST00000309241.9:c.79-5511C>T | ENSP00000312649.5:n.79-5511C>T | |
| ENST00000360453.8:c.79-5511C>T | ENSP00000353638.4:n.79-5511C>T | |
| ENST00000394320.7:c.79-5511C>T | ENSP00000377855.3:n.79-5511C>T | |
| ENST00000403750.5:c.4-5511C>T | ENSP00000384403.1:n.4-5511C>T | |
| ENST00000461780.1:n.433-2691C>T | ||
| NM_001172698.1:c.79-5511C>T | NP_001166169.1:n.79-5511C>T | |
| NM_001172699.1:c.4-5511C>T | NP_001166170.1:n.4-5511C>T | |
| NM_133263.3:c.79-5511C>T | NP_573570.3:n.79-5511C>T | |
| XM_011537553.1:c.79-5511C>T | XP_011535855.1:n.79-5511C>T | |
| XM_011537555.1:c.79-5511C>T | XP_011535857.1:n.79-5511C>T | |
| XM_011537557.1:c.79-5511C>T | XP_011535859.1:n.79-5511C>T | |
| XM_011537553.2:c.79-5511C>T | XP_011535855.1:n.79-5511C>T | |
| XM_011537555.2:c.79-5511C>T | XP_011535857.1:n.79-5511C>T | |
| NM_133263.4:c.79-5511C>T MANE Select | NP_573570.3:n.79-5511C>T | |
| NM_001172698.2:c.79-5511C>T | NP_001166169.1:n.79-5511C>T | |
| NM_001172699.2:c.4-5511C>T | NP_001166170.1:n.4-5511C>T |