gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09069197 (AFR)
Genomes Max Group AF
0.09069197 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50936813T>C , CM000676.2:g.50936813T>C | GRCh38 |
| NC_000014.8:g.51403531T>C , CM000676.1:g.51403531T>C | GRCh37 |
| NC_000014.7:g.50473281T>C | NCBI36 |
| NG_012796.1:g.12718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.345+923A>G MANE Select | ENSP00000216392.7:n.345+923A>G | |
| ENST00000216392.7:c.345+923A>G | ENSP00000216392.7:n.345+923A>G | |
| ENST00000530336.2:n.412+923A>G | ||
| ENST00000532462.5:c.345+923A>G | ENSP00000431657.1:n.345+923A>G | |
| ENST00000544180.6:c.244-1628A>G | ENSP00000443787.1:n.244-1628A>G | |
| NM_001163940.1:c.244-1628A>G | NP_001157412.1:n.244-1628A>G | |
| NM_002863.4:c.345+923A>G | NP_002854.3:n.345+923A>G | |
| NM_002863.5:c.345+923A>G MANE Select | NP_002854.3:n.345+923A>G | |
| NM_001163940.2:c.244-1628A>G | NP_001157412.1:n.244-1628A>G |