gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70236699 (AFR)
Genomes Max Group AF
0.70236699 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86724465C>T , CM000669.2:g.86724465C>T | GRCh38 |
| NC_000007.13:g.86353781C>T , CM000669.1:g.86353781C>T | GRCh37 |
| NC_000007.12:g.86191717C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361669.7:c.-140-40541C>T MANE Select | ENSP00000355316.2:n.-140-40541C>T | |
| ENST00000361669.6:c.-140-40541C>T | ENSP00000355316.2:n.-140-40541C>T | |
| ENST00000421579.1:c.-140-40541C>T | ENSP00000390037.1:n.-140-40541C>T | |
| ENST00000439827.1:c.-140-40541C>T | ENSP00000398767.1:n.-140-40541C>T | |
| ENST00000441140.1:c.-141+14260C>T | ENSP00000407490.1:n.-141+14260C>T | |
| ENST00000454217.1:c.85-61796C>T | ENSP00000405427.1:n.85-61796C>T | |
| NM_000840.2:c.-140-40541C>T | NP_000831.2:n.-140-40541C>T | |
| XM_011516088.1:c.-140-40541C>T | XP_011514390.1:n.-140-40541C>T | |
| XM_011516089.1:c.-140-40541C>T | XP_011514391.1:n.-140-40541C>T | |
| XM_011516090.1:c.-140-40541C>T | XP_011514392.1:n.-140-40541C>T | |
| NM_001363522.1:c.-140-40541C>T | NP_001350451.1:n.-140-40541C>T | |
| XM_017012073.2:c.-140-40541C>T | XP_016867562.1:n.-140-40541C>T | |
| NM_000840.3:c.-140-40541C>T MANE Select | NP_000831.2:n.-140-40541C>T | |
| NM_001363522.2:c.-140-40541C>T | NP_001350451.1:n.-140-40541C>T |