ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00536144 (MID)
Genomes Max Group AF
0.00011227 (NFE)
Exomes Max Group AF
0.00548587 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48862536G>A , CM000665.2:g.48862536G>A | GRCh38 |
| NC_000003.11:g.48899969G>A , CM000665.1:g.48899969G>A | GRCh37 |
| NC_000003.10:g.48874973G>A | NCBI36 |
| NG_008171.1:g.41361C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.535+6C>T MANE Select | ENSP00000326305.4:n.535+6C>T | |
| ENST00000319017.4:c.535+6C>T | ENSP00000326305.4:n.535+6C>T | |
| ENST00000430379.5:c.316+6C>T | ENSP00000388986.1:n.316+6C>T | |
| ENST00000440964.1:c.*365+6C>T | ENSP00000388563.1:n.*365+6C>T | |
| NM_000387.5:c.535+6C>T | NP_000378.1:n.535+6C>T | |
| XM_006713327.1:c.535+6C>T | XP_006713390.1:n.535+6C>T | |
| NM_000387.6:c.535+6C>T MANE Select | NP_000378.1:n.535+6C>T |