gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001776 (EAS)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00002009 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725805C>T , CM000673.2:g.46725805C>T | GRCh38 |
| NC_000011.9:g.46747355C>T , CM000673.1:g.46747355C>T | GRCh37 |
| NC_000011.8:g.46703931C>T | NCBI36 |
| NG_008953.1:g.11613C>T , LRG_551:g.11613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.560-54C>T MANE Select | ENSP00000308541.5:n.560-54C>T | |
| ENST00000311907.9:c.560-54C>T | ENSP00000308541.5:n.560-54C>T | |
| ENST00000442468.1:c.530-54C>T | ENSP00000387413.1:n.530-54C>T | |
| ENST00000490274.1:n.340-54C>T | ||
| ENST00000530231.5:c.560-54C>T | ENSP00000433907.1:n.560-54C>T | |
| NM_000506.3:c.560-54C>T | NP_000497.1:n.560-54C>T | |
| NM_000506.4:c.560-54C>T , LRG_551t1:c.560-54C>T | NP_000497.1:n.560-54C>T | |
| NM_001311257.1:c.512-54C>T | NP_001298186.1:n.512-54C>T | |
| XR_428840.2:n.604-54C>T | ||
| XR_428840.4:n.595-54C>T | ||
| NM_000506.5:c.560-54C>T MANE Select | NP_000497.1:n.560-54C>T | |
| NM_001311257.2:c.512-54C>T | NP_001298186.1:n.512-54C>T |