gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33365884 (AFR)
Genomes Max Group AF
0.33365884 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94305204C>T , CM000676.2:g.94305204C>T | GRCh38 |
| NC_000014.8:g.94771541C>T , CM000676.1:g.94771541C>T | GRCh37 |
| NC_000014.7:g.93841294C>T | NCBI36 |
| NG_011796.1:g.23148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341584.4:c.1033-601G>A MANE Select | ENSP00000342850.3:n.1033-601G>A | |
| ENST00000341584.3:c.1033-601G>A | ENSP00000342850.3:n.1033-601G>A | |
| ENST00000555056.1:c.*345-601G>A | ENSP00000451045.1:n.*345-601G>A | |
| NM_001756.3:c.1033-601G>A | NP_001747.2:n.1033-601G>A | |
| NM_001756.4:c.1033-601G>A MANE Select | NP_001747.3:n.1033-601G>A |