gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95224293 (EAS)
Genomes Max Group AF
0.95224293 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143302028T>C , CM000665.2:g.143302028T>C | GRCh38 |
| NC_000003.11:g.143020870T>C , CM000665.1:g.143020870T>C | GRCh37 |
| NC_000003.10:g.144503560T>C | NCBI36 |
| NG_017077.1:g.551504A>G | |
| NG_017077.2:g.551504A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.1605-33048A>G MANE Select | ENSP00000320246.6:n.1605-33048A>G | |
| ENST00000316549.10:c.1605-33048A>G | ENSP00000320246.6:n.1605-33048A>G | |
| NM_173653.3:c.1605-33048A>G | NP_775924.1:n.1605-33048A>G | |
| XM_011512703.1:c.957-33048A>G | XP_011511005.1:n.957-33048A>G | |
| XM_011512703.3:c.957-33048A>G | XP_011511005.1:n.957-33048A>G | |
| XM_017006202.2:c.1712-17686A>G | XP_016861691.1:n.1712-17686A>G | |
| XM_017006203.1:c.1254-33048A>G | XP_016861692.1:n.1254-33048A>G | |
| NM_173653.4:c.1605-33048A>G MANE Select | NP_775924.1:n.1605-33048A>G |