gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79653414 (SAS)
Genomes Max Group AF
0.79653414 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120921879G>A , CM000671.2:g.120921879G>A | GRCh38 |
| NC_000009.11:g.123684157G>A , CM000671.1:g.123684157G>A | GRCh37 |
| NC_000009.10:g.122723978G>A | NCBI36 |
| NG_023346.1:g.12295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373887.8:c.228+1826C>T MANE Select | ENSP00000362994.3:n.228+1826C>T | |
| ENST00000373887.7:c.228+1826C>T | ENSP00000362994.3:n.228+1826C>T | |
| ENST00000540010.1:c.228+1826C>T | ENSP00000443183.1:n.228+1826C>T | |
| NM_001190945.1:c.228+1826C>T | NP_001177874.1:n.228+1826C>T | |
| NM_005658.4:c.228+1826C>T | NP_005649.1:n.228+1826C>T | |
| NM_005658.5:c.228+1826C>T MANE Select | NP_005649.1:n.228+1826C>T | |
| NM_001190945.2:c.228+1826C>T | NP_001177874.1:n.228+1826C>T |