gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52154992 (NFE)
Genomes Max Group AF
0.52154992 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203182297G>A , CM000663.2:g.203182297G>A | GRCh38 |
| NC_000001.10:g.203151425G>A , CM000663.1:g.203151425G>A | GRCh37 |
| NC_000001.9:g.201418048G>A | NCBI36 |
| NG_013056.1:g.9498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255409.8:c.587+434C>T MANE Select | ENSP00000255409.3:n.587+434C>T | |
| ENST00000255409.7:c.587+434C>T | ENSP00000255409.3:n.587+434C>T | |
| ENST00000404436.2:c.75+434C>T | ||
| ENST00000472064.1:n.111+434C>T | ||
| NM_001276.2:c.587+434C>T | NP_001267.2:n.587+434C>T | |
| XM_011509105.1:c.605+434C>T | XP_011507407.1:n.605+434C>T | |
| XM_011509106.1:c.605+434C>T | XP_011507408.1:n.605+434C>T | |
| XM_011509107.1:c.587+434C>T | XP_011507409.1:n.587+434C>T | |
| XM_011509108.1:c.605+434C>T | XP_011507410.1:n.605+434C>T | |
| NM_001276.3:c.587+434C>T | NP_001267.2:n.587+434C>T | |
| NM_001276.4:c.587+434C>T MANE Select | NP_001267.2:n.587+434C>T |