gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009219 (AFR)
Genomes Max Group AF
0.00004743 (AFR)
Exomes Max Group AF
0.0000975 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49472461G>A , CM000672.2:g.49472461G>A | GRCh38 |
| NC_000010.10:g.50680507G>A , CM000672.1:g.50680507G>A | GRCh37 |
| NC_000010.9:g.50350513G>A | NCBI36 |
| NG_009442.1:g.71641C>T , LRG_465:g.71641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2839C>T MANE Select | ENSP00000348089.5:p.Arg947Ter | |
| ENST00000681632.1:n.4242C>T | ||
| ENST00000681659.1:c.2680C>T | ENSP00000505631.1:p.Arg894Ter | |
| ENST00000355832.9:c.2839C>T | ENSP00000348089.5:p.Arg947Ter | |
| ENST00000623073.3:c.*1135C>T | ENSP00000485650.1:n.*1135C>T | |
| ENST00000623115.3:c.949C>T | ENSP00000485321.1:p.Arg317Ter | |
| ENST00000624341.3:c.671C>T | ||
| NM_000124.3:c.2839C>T | NP_000115.1:p.Arg947Ter | |
| XR_945953.1:n.690-242G>A | ||
| NM_001346440.1:c.2839C>T | NP_001333369.1:p.Arg947Ter | |
| NM_000124.4:c.2839C>T MANE Select | NP_000115.1:p.Arg947Ter | |
| NM_001346440.2:c.2839C>T | NP_001333369.1:p.Arg947Ter |