gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12015758 (AFR)
Genomes Max Group AF
0.12015758 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68866673A>G , CM000672.2:g.68866673A>G | GRCh38 |
| NC_000010.10:g.70626429A>G , CM000672.1:g.70626429A>G | GRCh37 |
| NC_000010.9:g.70296435A>G | NCBI36 |
| NG_012975.1:g.44136A>G | |
| NG_012975.2:g.44137A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298596.11:c.311-15285A>G MANE Select | ENSP00000298596.6:n.311-15285A>G | |
| ENST00000642869.1:c.647-15285A>G | ENSP00000494558.1:n.647-15285A>G | |
| ENST00000298596.10:c.311-15285A>G | ENSP00000298596.6:n.311-15285A>G | |
| ENST00000399162.2:c.311-15285A>G | ENSP00000382115.2:n.311-15285A>G | |
| ENST00000399165.8:c.311-15285A>G | ENSP00000382118.4:n.311-15285A>G | |
| ENST00000399169.8:c.311-15285A>G | ENSP00000382121.4:n.311-15285A>G | |
| NM_001130159.2:c.311-15285A>G | NP_001123631.1:n.311-15285A>G | |
| NM_001130160.2:c.311-15285A>G | NP_001123632.1:n.311-15285A>G | |
| NM_001130161.2:c.311-15285A>G | NP_001123633.1:n.311-15285A>G | |
| NM_152709.4:c.311-15285A>G | NP_689922.3:n.311-15285A>G | |
| XM_011539454.1:c.-20-15285A>G | XP_011537756.1:n.-20-15285A>G | |
| XM_011539454.2:c.-20-15285A>G | XP_011537756.1:n.-20-15285A>G | |
| NM_152709.5:c.311-15285A>G MANE Select | NP_689922.3:n.311-15285A>G | |
| NM_001130161.3:c.311-15285A>G | NP_001123633.1:n.311-15285A>G | |
| NM_001130159.3:c.311-15285A>G | NP_001123631.1:n.311-15285A>G | |
| NM_001130160.3:c.311-15285A>G | NP_001123632.1:n.311-15285A>G | |
| NM_001130161.4:c.311-15285A>G | NP_001123633.1:n.311-15285A>G |