gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22716336 (MID)
Genomes Max Group AF
0.19764229 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8514205T>A , CM000674.2:g.8514205T>A | GRCh38 |
| NC_000012.11:g.8666801T>A , CM000674.1:g.8666801T>A | GRCh37 |
| NC_000012.10:g.8558068T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299665.3:c.28+445T>A MANE Select | ENSP00000299665.2:n.28+445T>A | |
| ENST00000299665.2:c.28+445T>A | ENSP00000299665.2:n.28+445T>A | |
| ENST00000382064.6:c.28+445T>A | ENSP00000371496.2:n.28+445T>A | |
| NM_080387.4:c.28+445T>A | NP_525126.2:n.28+445T>A | |
| XM_011520632.1:c.28+445T>A | XP_011518934.1:n.28+445T>A | |
| XM_011520633.1:c.28+445T>A | XP_011518935.1:n.28+445T>A | |
| XM_011520632.2:c.28+445T>A | XP_011518934.1:n.28+445T>A | |
| XM_011520633.2:c.28+445T>A | XP_011518935.1:n.28+445T>A | |
| NM_080387.5:c.28+445T>A MANE Select | NP_525126.2:n.28+445T>A |