gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4858376 (NFE)
Genomes Max Group AF
0.4858376 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.79354056C>T , CM000673.2:g.79354056C>T | GRCh38 |
| NC_000011.9:g.79065101C>T , CM000673.1:g.79065101C>T | GRCh37 |
| NC_000011.8:g.78742749C>T | NCBI36 |
| NG_051803.1:g.91596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.-320-56513G>A MANE Select | ENSP00000278550.7:n.-320-56513G>A | |
| ENST00000278550.11:c.-320-56513G>A | ENSP00000278550.7:n.-320-56513G>A | |
| ENST00000528688.5:n.240-56513G>A | ||
| ENST00000531583.1:n.441-56513G>A | ||
| NM_001098816.2:c.-320-56513G>A | NP_001092286.2:n.-320-56513G>A | |
| XM_011544924.1:c.-148-56513G>A | XP_011543226.1:n.-148-56513G>A | |
| XM_011544925.1:c.-292-56513G>A | XP_011543227.1:n.-292-56513G>A | |
| XM_011544927.1:c.-148-56513G>A | XP_011543229.1:n.-148-56513G>A | |
| XM_011544928.1:c.-320-56513G>A | XP_011543230.1:n.-320-56513G>A | |
| XM_011544929.1:c.-148-56513G>A | XP_011543231.1:n.-148-56513G>A | |
| XM_011544930.1:c.-660-56513G>A | XP_011543232.1:n.-660-56513G>A | |
| XM_017017525.1:c.-148-56513G>A | XP_016873014.1:n.-148-56513G>A | |
| NM_001098816.3:c.-320-56513G>A MANE Select | NP_001092286.2:n.-320-56513G>A |