gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43682881 (SAS)
Genomes Max Group AF
0.43682881 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47588525C>T , CM000685.2:g.47588525C>T | GRCh38 |
| NC_000023.10:g.47447924C>T , CM000685.1:g.47447924C>T | GRCh37 |
| NC_000023.9:g.47332868C>T | NCBI36 |
| NG_008437.1:g.36333G>A | |
| NG_012533.1:g.11235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.775-11024G>A MANE Select | ENSP00000295987.7:n.775-11024G>A | |
| ENST00000340666.5:c.775-11024G>A | ENSP00000343206.4:n.775-11024G>A | |
| ENST00000295987.11:c.775-11024G>A | ENSP00000295987.7:n.775-11024G>A | |
| ENST00000340666.4:c.775-11024G>A | ENSP00000343206.4:n.775-11024G>A | |
| NM_006950.3:c.775-11024G>A MANE Select | NP_008881.2:n.775-11024G>A | |
| NM_133499.2:c.775-11024G>A | NP_598006.1:n.775-11024G>A |