gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36162195 (AFR)
Genomes Max Group AF
0.36162195 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72699964C>T , CM000679.2:g.72699964C>T | GRCh38 |
| NC_000017.10:g.70696103C>T , CM000679.1:g.70696103C>T | GRCh37 |
| NC_000017.9:g.68207698C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255559.8:c.671+36686G>A MANE Select | ENSP00000255559.3:n.671+36686G>A | |
| ENST00000255559.7:c.671+36686G>A | ENSP00000255559.3:n.671+36686G>A | |
| ENST00000542342.6:c.692+36686G>A | ENSP00000445829.2:n.692+36686G>A | |
| ENST00000579988.1:n.98+25553G>A | ||
| ENST00000582769.5:c.419+36686G>A | ENSP00000463467.1:n.419+36686G>A | |
| NM_001159770.1:c.692+36686G>A | NP_001153242.1:n.692+36686G>A | |
| NM_139177.3:c.671+36686G>A | NP_631916.2:n.671+36686G>A | |
| XM_005257134.2:c.671+36686G>A | XP_005257191.1:n.671+36686G>A | |
| XM_006721754.2:c.692+36686G>A | XP_006721817.1:n.692+36686G>A | |
| XM_006721755.2:c.692+36686G>A | XP_006721818.1:n.692+36686G>A | |
| XM_006721757.2:c.521+36686G>A | XP_006721820.1:n.521+36686G>A | |
| XM_011524493.1:c.692+36686G>A | XP_011522795.1:n.692+36686G>A | |
| XM_011524494.1:c.692+36686G>A | XP_011522796.1:n.692+36686G>A | |
| XM_011524495.1:c.693-4898G>A | XP_011522797.1:n.693-4898G>A | |
| NM_001352691.1:c.671+36686G>A | NP_001339620.1:n.671+36686G>A | |
| NM_001352692.1:c.692+36686G>A | NP_001339621.1:n.692+36686G>A | |
| NM_001352693.1:c.671+36686G>A | NP_001339622.1:n.671+36686G>A | |
| XM_011524494.2:c.692+36686G>A | XP_011522796.1:n.692+36686G>A | |
| XM_011524495.3:c.693-4898G>A | XP_011522797.1:n.693-4898G>A | |
| XM_017024330.1:c.671+36686G>A | XP_016879819.1:n.671+36686G>A | |
| XM_017024332.1:c.671+36686G>A | XP_016879821.1:n.671+36686G>A | |
| XM_017024333.1:c.542+36686G>A | XP_016879822.1:n.542+36686G>A | |
| XM_017024334.2:c.521+36686G>A | XP_016879823.1:n.521+36686G>A | |
| XM_017024335.1:c.500+36686G>A | XP_016879824.1:n.500+36686G>A | |
| XM_017024336.2:c.542+36686G>A | XP_016879825.1:n.542+36686G>A | |
| XM_017024337.1:c.542+36686G>A | XP_016879826.1:n.542+36686G>A | |
| NM_001159770.2:c.692+36686G>A | NP_001153242.1:n.692+36686G>A | |
| NM_001352691.2:c.671+36686G>A | NP_001339620.1:n.671+36686G>A | |
| NM_001352692.2:c.692+36686G>A | NP_001339621.1:n.692+36686G>A | |
| NM_001352693.2:c.671+36686G>A | NP_001339622.1:n.671+36686G>A | |
| NM_139177.4:c.671+36686G>A MANE Select | NP_631916.2:n.671+36686G>A |