gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35404118 (EAS)
Genomes Max Group AF
0.35404118 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119542097A>G , CM000665.2:g.119542097A>G | GRCh38 |
| NC_000003.11:g.119260944A>G , CM000665.1:g.119260944A>G | GRCh37 |
| NC_000003.10:g.120743634A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264246.8:c.418+2453T>C MANE Select | ENSP00000264246.3:n.418+2453T>C | |
| ENST00000264246.7:c.418+2453T>C | ENSP00000264246.3:n.418+2453T>C | |
| ENST00000383669.3:c.418+2453T>C | ENSP00000373165.3:n.418+2453T>C | |
| ENST00000478182.5:c.418+2453T>C | ENSP00000418364.1:n.418+2453T>C | |
| NM_005191.3:c.418+2453T>C | NP_005182.1:n.418+2453T>C | |
| XM_011513325.1:c.418+2453T>C | XP_011511627.1:n.418+2453T>C | |
| XM_011513326.1:c.418+2453T>C | XP_011511628.1:n.418+2453T>C | |
| XM_011513327.1:c.205+2453T>C | XP_011511629.1:n.205+2453T>C | |
| XM_011513327.2:c.205+2453T>C | XP_011511629.1:n.205+2453T>C | |
| XM_017007520.2:c.418+2453T>C | XP_016863009.1:n.418+2453T>C | |
| NM_005191.4:c.418+2453T>C MANE Select | NP_005182.1:n.418+2453T>C |