gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23918149 (AFR)
Genomes Max Group AF
0.23918149 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36487596T>C , CM000673.2:g.36487596T>C | GRCh38 |
| NC_000011.9:g.36509146T>C , CM000673.1:g.36509146T>C | GRCh37 |
| NC_000011.8:g.36465722T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526995.6:c.*2242A>G MANE Select | ENSP00000433623.1:n.*2242A>G | |
| ENST00000526995.5:c.*2242A>G | ENSP00000433623.1:n.*2242A>G | |
| NM_004620.3:c.*2242A>G | NP_004611.1:n.*2242A>G | |
| NM_145803.2:c.*2242A>G | NP_665802.1:n.*2242A>G | |
| NM_004620.4:c.*2242A>G MANE Select | NP_004611.1:n.*2242A>G | |
| NM_145803.3:c.*2242A>G | NP_665802.1:n.*2242A>G |