gnomAD v4:
Joint Max Group AF
0.0000012 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92577528A>T , CM000676.2:g.92577528A>T | GRCh38 |
| NC_000014.8:g.93043873A>T , CM000676.1:g.93043873A>T | GRCh37 |
| NC_000014.7:g.92113626A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216487.12:c.367+51A>T MANE Select | ENSP00000216487.7:n.367+51A>T | |
| ENST00000216487.11:c.367+51A>T | ENSP00000216487.7:n.367+51A>T | |
| ENST00000418924.6:n.266+51A>T | ||
| ENST00000555589.5:c.367+51A>T | ENSP00000450682.1:n.367+51A>T | |
| ENST00000555891.1:n.183+51A>T | ||
| ENST00000555908.5:n.256+51A>T | ||
| ENST00000556385.5:n.234+51A>T | ||
| ENST00000620541.4:c.367+51A>T | ENSP00000480603.1:n.367+51A>T | |
| NM_024832.3:c.367+51A>T | NP_079108.3:n.367+51A>T | |
| XM_011537163.1:c.142+51A>T | XP_011535465.1:n.142+51A>T | |
| XM_011537164.1:c.139+51A>T | XP_011535466.1:n.139+51A>T | |
| XM_011537165.1:c.-572+51A>T | XP_011535467.1:n.-572+51A>T | |
| NM_001319987.1:c.142+51A>T | NP_001306916.1:n.142+51A>T | |
| NM_024832.4:c.367+51A>T | NP_079108.3:n.367+51A>T | |
| XM_011537164.3:c.139+51A>T | XP_011535466.1:n.139+51A>T | |
| XM_011537165.3:c.-572+51A>T | XP_011535467.1:n.-572+51A>T | |
| XM_017021651.2:c.274+51A>T | XP_016877140.1:n.274+51A>T | |
| XM_017021652.1:c.367+51A>T | XP_016877141.1:n.367+51A>T | |
| XM_017021653.1:c.367+51A>T | XP_016877142.1:n.367+51A>T | |
| XM_017021654.1:c.367+51A>T | XP_016877143.1:n.367+51A>T | |
| NM_024832.5:c.367+51A>T MANE Select | NP_079108.3:n.367+51A>T | |
| NM_001319987.2:c.142+51A>T | NP_001306916.1:n.142+51A>T |