gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33991658 (AFR)
Genomes Max Group AF
0.33991658 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64727703G>A , CM000670.2:g.64727703G>A | GRCh38 |
| NC_000008.10:g.65640260G>A , CM000670.1:g.65640260G>A | GRCh37 |
| NC_000008.9:g.65802814G>A | NCBI36 |
| NG_008338.1:g.76089C>T | |
| NG_008338.2:g.76089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.122+70763C>T MANE Select | ENSP00000310721.3:n.122+70763C>T | |
| ENST00000310193.3:c.122+70763C>T | ENSP00000310721.3:n.122+70763C>T | |
| NM_004820.3:c.122+70763C>T | NP_004811.1:n.122+70763C>T | |
| NM_001324112.1:c.122+70763C>T | NP_001311041.1:n.122+70763C>T | |
| NM_004820.4:c.122+70763C>T | NP_004811.1:n.122+70763C>T | |
| NM_004820.5:c.122+70763C>T MANE Select | NP_004811.1:n.122+70763C>T | |
| NM_001324112.2:c.122+70763C>T | NP_001311041.1:n.122+70763C>T |