ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0006108 (SAS)
Genomes Max Group AF
0.00054075 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192783C>A , CM000675.2:g.20192783C>A | GRCh38 |
| NC_000013.10:g.20766922C>A , CM000675.1:g.20766922C>A | GRCh37 |
| NC_000013.9:g.19664922C>A | NCBI36 |
| NG_008358.1:g.5193G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-23G>T MANE Select | ENSP00000372299.4:n.-23G>T | |
| ENST00000382848.4:c.-23G>T | ENSP00000372299.4:n.-23G>T | |
| NM_004004.5:c.-23G>T | NP_003995.2:n.-23G>T | |
| NM_004004.6:c.-23G>T MANE Select | NP_003995.2:n.-23G>T |