gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61813147 (AFR)
Genomes Max Group AF
0.61813147 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43829718A>C , CM000685.2:g.43829718A>C | GRCh38 |
| NC_000023.10:g.43688964A>C , CM000685.1:g.43688964A>C | GRCh37 |
| NC_000023.9:g.43573908A>C | NCBI36 |
| NG_008723.1:g.57758T>G | |
| NG_008723.2:g.57758T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378069.5:c.279+9150T>G MANE Select | ENSP00000367309.4:n.279+9150T>G | |
| ENST00000378069.4:c.279+9150T>G | ENSP00000367309.4:n.279+9150T>G | |
| ENST00000487544.1:n.605+9150T>G | ||
| NM_000898.4:c.279+9150T>G | NP_000889.3:n.279+9150T>G | |
| XM_005272607.3:c.231+9150T>G | XP_005272664.1:n.231+9150T>G | |
| XM_005272608.2:c.231+9150T>G | XP_005272665.1:n.231+9150T>G | |
| XM_011543914.1:c.141+13952T>G | XP_011542216.1:n.141+13952T>G | |
| XM_005272608.3:c.231+9150T>G | XP_005272665.1:n.231+9150T>G | |
| XM_017029523.1:c.231+9150T>G | XP_016885012.1:n.231+9150T>G | |
| XM_017029524.2:c.231+9150T>G | XP_016885013.1:n.231+9150T>G | |
| NM_000898.5:c.279+9150T>G MANE Select | NP_000889.3:n.279+9150T>G |