gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22916579 (SAS)
Genomes Max Group AF
0.22916579 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23365327G>A , CM000685.2:g.23365327G>A | GRCh38 |
| NC_000023.10:g.23383444G>A , CM000685.1:g.23383444G>A | GRCh37 |
| NC_000023.9:g.23293365G>A | NCBI36 |
| NG_021300.1:g.35460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379361.5:c.352-14264G>A MANE Select | ENSP00000368666.4:n.352-14264G>A | |
| ENST00000379361.4:c.352-14264G>A | ENSP00000368666.4:n.352-14264G>A | |
| ENST00000456522.1:c.159-27204G>A | ||
| ENST00000616022.1:c.37-14264G>A | ENSP00000478663.1:n.37-14264G>A | |
| NM_173495.2:c.352-14264G>A | NP_775766.2:n.352-14264G>A | |
| XM_011545449.1:c.352-14264G>A | XP_011543751.1:n.352-14264G>A | |
| XM_011545449.3:c.352-14264G>A | XP_011543751.1:n.352-14264G>A | |
| NM_173495.3:c.352-14264G>A MANE Select | NP_775766.2:n.352-14264G>A |