gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93973917G>T , CM000665.2:g.93973917G>T | GRCh38 |
| NC_000003.11:g.93692761G>T , CM000665.1:g.93692761G>T | GRCh37 |
| NC_000003.10:g.95175451G>T | NCBI36 |
| NG_009813.1:g.5174C>A , LRG_572:g.5174C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648721.1:n.336-280C>A | ||
| ENST00000648853.1:c.34+5727C>A | ENSP00000497262.1:n.34+5727C>A | |
| ENST00000650591.1:c.-168C>A | ENSP00000497376.1:n.-168C>A | |
| ENST00000394236.7:c.-168C>A | ENSP00000377783.3:n.-168C>A | |
| NM_000313.3:c.-168C>A , LRG_572t1:c.-168C>A | NP_000304.2:n.-168C>A | |
| NM_001314077.1:c.-168C>A , LRG_572t2:c.-168C>A | NP_001301006.1:n.-168C>A |