gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07894042 (AFR)
Genomes Max Group AF
0.07894042 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95321453C>T , CM000669.2:g.95321453C>T | GRCh38 |
| NC_000007.13:g.94950765C>T , CM000669.1:g.94950765C>T | GRCh37 |
| NC_000007.12:g.94788701C>T | NCBI36 |
| NG_008779.1:g.8120G>A | |
| NG_008779.2:g.8254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.74+2949G>A MANE Select | ENSP00000222381.3:n.74+2949G>A | |
| ENST00000222381.7:c.74+2949G>A | ENSP00000222381.3:n.74+2949G>A | |
| ENST00000433729.1:c.74+2949G>A | ENSP00000407359.1:n.74+2949G>A | |
| NM_000446.5:c.74+2949G>A | NP_000437.3:n.74+2949G>A | |
| NM_000446.6:c.74+2949G>A | NP_000437.3:n.74+2949G>A | |
| NM_000446.7:c.74+2949G>A MANE Select | NP_000437.3:n.74+2949G>A |