gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06194063 (NFE)
Genomes Max Group AF
0.06194063 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65022415A>G , CM000679.2:g.65022415A>G | GRCh38 |
| NC_000017.10:g.63018533A>G , CM000679.1:g.63018533A>G | GRCh37 |
| NC_000017.9:g.60448995A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439174.7:c.511-4112T>C MANE Select | ENSP00000400717.2:n.511-4112T>C | |
| ENST00000439174.6:c.511-4112T>C | ENSP00000400717.2:n.511-4112T>C | |
| ENST00000541118.1:c.226-4112T>C | ENSP00000439647.1:n.226-4112T>C | |
| NM_001282425.1:c.226-4112T>C | NP_001269354.1:n.226-4112T>C | |
| NM_006572.5:c.511-4112T>C | NP_006563.2:n.511-4112T>C | |
| XM_011524202.1:c.511-4112T>C | XP_011522504.1:n.511-4112T>C | |
| XR_934352.1:n.514-4112T>C | ||
| NM_006572.6:c.511-4112T>C MANE Select | NP_006563.2:n.511-4112T>C | |
| NM_001282425.2:c.226-4112T>C | NP_001269354.1:n.226-4112T>C |