gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15062947 (MID)
Genomes Max Group AF
0.08995757 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68132765C>T , CM000664.2:g.68132765C>T | GRCh38 |
| NC_000002.11:g.68359897C>T , CM000664.1:g.68359897C>T | GRCh37 |
| NC_000002.10:g.68213401C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295121.11:c.867-1320G>A MANE Select | ENSP00000295121.6:n.867-1320G>A | |
| ENST00000295121.10:c.867-1320G>A | ENSP00000295121.6:n.867-1320G>A | |
| ENST00000406334.3:c.*884-1320G>A | ENSP00000384974.3:n.*884-1320G>A | |
| ENST00000457114.5:c.278-760G>A | ||
| ENST00000492039.6:n.857-1320G>A | ||
| NM_138458.3:c.867-1320G>A | NP_612467.1:n.867-1320G>A | |
| NM_138458.4:c.867-1320G>A MANE Select | NP_612467.1:n.867-1320G>A |