gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97651389 (AFR)
Genomes Max Group AF
0.97651389 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116781707G>A , CM000673.2:g.116781707G>A | GRCh38 |
| NC_000011.9:g.116652423G>A , CM000673.1:g.116652423G>A | GRCh37 |
| NC_000011.8:g.116157633G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.1179+451C>T MANE Select | ENSP00000227322.3:n.1179+451C>T | |
| ENST00000227322.7:c.1179+451C>T | ENSP00000227322.3:n.1179+451C>T | |
| ENST00000429220.5:c.958+451C>T | ||
| ENST00000444935.5:c.1091+1212C>T | ||
| NM_003904.3:c.1179+451C>T | NP_003895.1:n.1179+451C>T | |
| NM_001317086.1:c.1017+451C>T | NP_001304015.1:n.1017+451C>T | |
| NM_003904.4:c.1179+451C>T | NP_003895.1:n.1179+451C>T | |
| XR_001748023.2:n.2507+451C>T | ||
| NM_003904.5:c.1179+451C>T MANE Select | NP_003895.1:n.1179+451C>T | |
| NM_001317086.2:c.1017+451C>T | NP_001304015.1:n.1017+451C>T |