gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54835305 (NFE)
Genomes Max Group AF
0.54835305 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36700882T>C , CM000684.2:g.36700882T>C | GRCh38 |
| NC_000022.10:g.37096927T>C , CM000684.1:g.37096927T>C | GRCh37 |
| NC_000022.9:g.35426873T>C | NCBI36 |
| NG_031861.1:g.6764A>G | |
| NG_031861.2:g.6977A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.211+1484A>G MANE Select | ENSP00000300105.6:n.211+1484A>G | |
| ENST00000300105.6:c.211+1484A>G | ENSP00000300105.6:n.211+1484A>G | |
| NM_006078.3:c.211+1484A>G | NP_006069.1:n.211+1484A>G | |
| NM_006078.4:c.211+1484A>G | NP_006069.1:n.211+1484A>G | |
| NM_001379051.1:c.142+1484A>G | NP_001365980.1:n.142+1484A>G | |
| NM_006078.5:c.211+1484A>G MANE Select | NP_006069.1:n.211+1484A>G | |
| NR_166440.1:n.1387+1484A>G |