gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77752544 (AFR)
Genomes Max Group AF
0.77347924 (AFR)
Exomes Max Group AF
0.77893043 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58388932A>G , CM000672.2:g.58388932A>G | GRCh38 |
| NC_000010.10:g.60148692A>G , CM000672.1:g.60148692A>G | GRCh37 |
| NC_000010.9:g.59818698A>G | NCBI36 |
| NG_053006.1:g.8790A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487519.6:c.441+113A>G MANE Select | ENSP00000420588.1:n.441+113A>G | |
| ENST00000373895.7:c.441+113A>G | ENSP00000363002.3:n.441+113A>G | |
| ENST00000373899.3:n.711+113A>G | ||
| ENST00000395377.2:c.385+113A>G | ||
| ENST00000487519.5:c.441+113A>G | ENSP00000420588.1:n.441+113A>G | |
| NM_001270782.1:c.441+113A>G | NP_001257711.1:n.441+113A>G | |
| NM_003201.2:c.441+113A>G | NP_003192.1:n.441+113A>G | |
| NR_073073.1:n.913+113A>G | ||
| XM_011540120.1:c.442-20A>G | XP_011538422.1:n.442-20A>G | |
| XM_011540121.1:c.440+114A>G | XP_011538423.1:n.440+114A>G | |
| XM_011540121.3:c.440+114A>G | XP_011538423.1:n.440+114A>G | |
| NM_003201.3:c.441+113A>G MANE Select | NP_003192.1:n.441+113A>G | |
| NM_001270782.2:c.441+113A>G | NP_001257711.1:n.441+113A>G | |
| NR_073073.2:n.646+113A>G |