gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74900777 (AFR)
Genomes Max Group AF
0.74900777 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50448593G>A , CM000685.2:g.50448593G>A | GRCh38 |
| NC_000023.10:g.50191591G>A , CM000685.1:g.50191591G>A | GRCh37 |
| NC_000023.9:g.50208331G>A | NCBI36 |
| NG_033143.2:g.27130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611977.2:c.645+21441C>T MANE Select | ENSP00000477515.1:n.645+21441C>T | |
| ENST00000611977.1:c.645+21441C>T | ENSP00000477515.1:n.645+21441C>T | |
| NM_001013742.3:c.645+21441C>T | NP_001013764.1:n.645+21441C>T | |
| XM_017029268.2:c.645+21441C>T | XP_016884757.1:n.645+21441C>T | |
| NM_001013742.4:c.645+21441C>T MANE Select | NP_001013764.1:n.645+21441C>T |