gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62081136 (AFR)
Genomes Max Group AF
0.62081136 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40337557A>G , CM000666.2:g.40337557A>G | GRCh38 |
| NC_000004.11:g.40339574A>G , CM000666.1:g.40339574A>G | GRCh37 |
| NC_000004.10:g.40034331A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.365+193A>G MANE Select | ENSP00000312663.2:n.365+193A>G | |
| ENST00000310169.2:c.365+193A>G | ENSP00000312663.2:n.365+193A>G | |
| ENST00000502377.1:n.79+193A>G | ||
| NM_017581.3:c.365+193A>G | NP_060051.2:n.365+193A>G | |
| NM_017581.4:c.365+193A>G MANE Select | NP_060051.2:n.365+193A>G |