gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27424839 (SAS)
Genomes Max Group AF
0.27424839 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27792215T>C , CM000684.2:g.27792215T>C | GRCh38 |
| NC_000022.10:g.28188203T>C , CM000684.1:g.28188203T>C | GRCh37 |
| NC_000022.9:g.26518203T>C | NCBI36 |
| NG_023258.1:g.14284A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.306+2908A>G | ||
| ENST00000302326.5:c.3781+4548A>G MANE Select | ENSP00000304956.4:n.3781+4548A>G | |
| ENST00000302326.4:c.3781+4548A>G | ENSP00000304956.4:n.3781+4548A>G | |
| ENST00000424656.1:c.134+4548A>G | ||
| NM_002430.2:c.3781+4548A>G | NP_002421.3:n.3781+4548A>G | |
| NM_002430.3:c.3781+4548A>G MANE Select | NP_002421.3:n.3781+4548A>G |