gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43051297 (MID)
Genomes Max Group AF
0.40317752 (AMR)
Exomes Max Group AF
0.43730793 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42754099A>G , CM000664.2:g.42754099A>G | GRCh38 |
| NC_000002.11:g.42981239A>G , CM000664.1:g.42981239A>G | GRCh37 |
| NC_000002.10:g.42834743A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405094.2:c.*700A>G MANE Select | ENSP00000385823.1:n.*700A>G | |
| ENST00000405592.5:c.*700A>G | ENSP00000383973.1:n.*700A>G | |
| ENST00000406652.5:c.*700A>G | ENSP00000384249.1:n.*700A>G | |
| NM_001282755.1:c.*700A>G | NP_001269684.1:n.*700A>G | |
| NM_001282756.1:c.*700A>G | NP_001269685.1:n.*700A>G | |
| XM_005264456.2:c.*700A>G | XP_005264513.1:n.*700A>G | |
| XM_005264458.2:c.*700A>G | XP_005264515.1:n.*700A>G | |
| XM_005264459.2:c.*700A>G | XP_005264516.1:n.*700A>G | |
| XM_011533006.1:c.*700A>G | XP_011531308.1:n.*700A>G | |
| XR_939697.1:n.1791-29816A>G | ||
| XR_939698.1:n.2516A>G | ||
| NM_001330442.1:c.*700A>G | NP_001317371.1:n.*700A>G | |
| NM_001330443.1:c.*700A>G | NP_001317372.1:n.*700A>G | |
| NM_001330444.1:c.*700A>G | NP_001317373.1:n.*700A>G | |
| XM_024453019.1:c.*700A>G | XP_024308787.1:n.*700A>G | |
| XR_001738859.2:n.1794-29816A>G | ||
| XR_001738860.2:n.2516A>G | ||
| XR_939697.3:n.1794-29816A>G | ||
| NM_001330442.2:c.*700A>G MANE Select | NP_001317371.1:n.*700A>G | |
| NM_001330443.2:c.*700A>G | NP_001317372.1:n.*700A>G | |
| NM_001330444.2:c.*700A>G | NP_001317373.1:n.*700A>G | |
| NM_001282755.2:c.*700A>G | NP_001269684.1:n.*700A>G | |
| NM_001282756.2:c.*700A>G | NP_001269685.1:n.*700A>G |