gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00464667 (MID)
Genomes Max Group AF
0.0000731 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.14316465G>A , CM000670.2:g.14316465G>A | GRCh38 |
| NC_000008.10:g.14173974G>A , CM000670.1:g.14173974G>A | GRCh37 |
| NC_000008.9:g.14218345G>A | NCBI36 |
| NG_008899.1:g.926819C>T , LRG_208:g.926819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382080.6:c.336+7638C>T MANE Select | ENSP00000371512.1:n.336+7638C>T | |
| ENST00000382080.5:c.336+7638C>T | ENSP00000371512.1:n.336+7638C>T | |
| ENST00000421524.6:c.196-78786C>T | ENSP00000405224.2:n.196-78786C>T | |
| ENST00000613692.1:c.-58+7638C>T | ENSP00000481839.1:n.-58+7638C>T | |
| NM_139167.2:c.336+7638C>T , LRG_208t1:c.336+7638C>T | NP_631906.2:n.336+7638C>T | |
| NM_001322879.1:c.235-78786C>T | NP_001309808.1:n.235-78786C>T | |
| NM_001322880.1:c.336+7638C>T | NP_001309809.1:n.336+7638C>T | |
| NM_001322881.1:c.114+7638C>T | NP_001309810.1:n.114+7638C>T | |
| NM_139167.3:c.336+7638C>T | NP_631906.2:n.336+7638C>T | |
| NM_139167.4:c.336+7638C>T MANE Select | NP_631906.2:n.336+7638C>T | |
| NM_001322879.2:c.235-78786C>T | NP_001309808.1:n.235-78786C>T | |
| NM_001322880.2:c.336+7638C>T | NP_001309809.1:n.336+7638C>T | |
| NM_001322881.2:c.114+7638C>T | NP_001309810.1:n.114+7638C>T |