gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57985973 (AFR)
Genomes Max Group AF
0.57985973 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118169895C>T , CM000673.2:g.118169895C>T | GRCh38 |
| NC_000011.9:g.118040610C>T , CM000673.1:g.118040610C>T | GRCh37 |
| NC_000011.8:g.117545820C>T | NCBI36 |
| NG_042217.1:g.11728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.71-1144G>A MANE Select | ENSP00000278947.5:n.71-1144G>A | |
| ENST00000658882.1:c.174+424G>A | ENSP00000499572.1:n.174+424G>A | |
| ENST00000665446.1:n.306+424G>A | ||
| ENST00000669850.1:n.313-1144G>A | ||
| ENST00000278947.5:c.71-1144G>A | ENSP00000278947.5:n.71-1144G>A | |
| NM_004588.4:c.71-1144G>A | NP_004579.1:n.71-1144G>A | |
| NM_004588.5:c.71-1144G>A MANE Select | NP_004579.1:n.71-1144G>A |