gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29183693 (AFR)
Genomes Max Group AF
0.29183693 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149001755G>A , CM000667.2:g.149001755G>A | GRCh38 |
| NC_000005.9:g.148381318G>A , CM000667.1:g.148381318G>A | GRCh37 |
| NC_000005.8:g.148361511G>A | NCBI36 |
| NG_007947.2:g.66420C>T , LRG_269:g.66420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*2956C>T MANE Select | ENSP00000423660.1:n.*2956C>T | |
| ENST00000643113.1:c.1598C>T | ||
| ENST00000675793.1:c.*7880C>T | ENSP00000502039.1:n.*7880C>T | |
| ENST00000323829.9:c.*6211C>T | ENSP00000313025.5:n.*6211C>T | |
| ENST00000504690.5:c.*12+1971C>T | ENSP00000425627.1:n.*12+1971C>T | |
| ENST00000510350.1:n.231+5126C>T | ||
| NM_024577.3:c.*2956C>T , LRG_269t1:c.*2956C>T | NP_078853.2:n.*2956C>T | |
| NM_024577.4:c.*2956C>T MANE Select | NP_078853.2:n.*2956C>T |