gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79084796 (AFR)
Genomes Max Group AF
0.79084796 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88778524T>C , CM000678.2:g.88778524T>C | GRCh38 |
| NC_000016.9:g.88844932T>C , CM000678.1:g.88844932T>C | GRCh37 |
| NC_000016.8:g.87372433T>C | NCBI36 |
| NG_042229.1:g.11697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.64+6377A>G MANE Select | ENSP00000301015.9:n.64+6377A>G | |
| ENST00000301015.13:c.64+6377A>G | ENSP00000301015.9:n.64+6377A>G | |
| NM_001142864.2:c.64+6377A>G | NP_001136336.2:n.64+6377A>G | |
| NM_001142864.3:c.64+6377A>G | NP_001136336.2:n.64+6377A>G | |
| NM_001142864.4:c.64+6377A>G MANE Select | NP_001136336.2:n.64+6377A>G |