gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12562327 (NFE)
Genomes Max Group AF
0.12562327 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30263512T>C , CM000679.2:g.30263512T>C | GRCh38 |
| NC_000017.10:g.28590530T>C , CM000679.1:g.28590530T>C | GRCh37 |
| NC_000017.9:g.25614656T>C | NCBI36 |
| NG_011440.1:g.33545A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261714.11:c.1216+3373A>G MANE Select | ENSP00000261714.6:n.1216+3373A>G | |
| ENST00000261714.10:c.1216+3373A>G | ENSP00000261714.6:n.1216+3373A>G | |
| ENST00000578090.5:c.*890+3373A>G | ENSP00000462353.1:n.*890+3373A>G | |
| NM_000386.3:c.1216+3373A>G | NP_000377.1:n.1216+3373A>G | |
| NM_000386.4:c.1216+3373A>G MANE Select | NP_000377.1:n.1216+3373A>G |