gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42324669 (AFR)
Genomes Max Group AF
0.42324301 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99878314T>C , CM000670.2:g.99878314T>C | GRCh38 |
| NC_000008.10:g.100890542T>C , CM000670.1:g.100890542T>C | GRCh37 |
| NC_000008.9:g.100959718T>C | NCBI36 |
| NG_007098.2:g.870049T>C , LRG_351:g.870049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520468.7:c.*16-49A>G MANE Select | ENSP00000428895.1:n.*16-49A>G | |
| ENST00000297564.6:c.*16-49A>G | ENSP00000297564.2:n.*16-49A>G | |
| ENST00000517682.6:c.*16-49A>G | ENSP00000429714.1:n.*16-49A>G | |
| ENST00000520271.5:c.*16-49A>G | ENSP00000428150.1:n.*16-49A>G | |
| ENST00000520468.6:c.*16-49A>G | ENSP00000428895.1:n.*16-49A>G | |
| ENST00000520517.5:c.*16-49A>G | ENSP00000429991.1:n.*16-49A>G | |
| ENST00000522934.5:c.*16-49A>G | ENSP00000428702.1:n.*16-49A>G | |
| ENST00000522940.5:c.*16-49A>G | ENSP00000428965.1:n.*16-49A>G | |
| ENST00000524245.5:c.*16-49A>G | ENSP00000429410.1:n.*16-49A>G | |
| ENST00000606245.1:n.481A>G | ||
| NM_004374.3:c.*16-49A>G | NP_004365.1:n.*16-49A>G | |
| XM_017013020.1:c.*16-49A>G | XP_016868509.1:n.*16-49A>G | |
| NM_004374.4:c.*16-49A>G MANE Select | NP_004365.1:n.*16-49A>G |