gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09975072 (MID)
Genomes Max Group AF
0.05938275 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237780915A>G , CM000664.2:g.237780915A>G | GRCh38 |
| NC_000002.11:g.238689558A>G , CM000664.1:g.238689558A>G | GRCh37 |
| NC_000002.10:g.238354297A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308482.14:c.*1383A>G MANE Select | ENSP00000310109.9:n.*1383A>G | |
| ENST00000489603.5:n.440+6453A>G | ||
| NM_001137550.1:c.*1383A>G | NP_001131022.1:n.*1383A>G | |
| NM_001137551.1:c.*1383A>G | NP_001131023.1:n.*1383A>G | |
| NM_001137550.2:c.*1383A>G MANE Select | NP_001131022.1:n.*1383A>G | |
| NM_001137551.2:c.*1383A>G | NP_001131023.1:n.*1383A>G |