gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0473796 (AFR)
Genomes Max Group AF
0.0473796 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42169746A>G , CM000670.2:g.42169746A>G | GRCh38 |
| NC_000008.10:g.42027264A>G , CM000670.1:g.42027264A>G | GRCh37 |
| NC_000008.9:g.42146421A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396926.8:c.*685A>G MANE Select | ENSP00000380132.3:n.*685A>G | |
| ENST00000174653.3:c.*685A>G | ENSP00000174653.3:n.*685A>G | |
| ENST00000396926.7:c.*685A>G | ENSP00000380132.3:n.*685A>G | |
| ENST00000518421.5:c.*685A>G | ENSP00000428787.1:n.*685A>G | |
| ENST00000520689.1:c.372-143A>G | ENSP00000429804.1:n.372-143A>G | |
| NM_001134296.1:c.*685A>G | NP_001127768.1:n.*685A>G | |
| NM_006803.3:c.*685A>G | NP_006794.1:n.*685A>G | |
| XM_017012977.2:c.*685A>G | XP_016868466.1:n.*685A>G | |
| XR_001745459.2:n.2227A>G | ||
| NM_006803.4:c.*685A>G MANE Select | NP_006794.1:n.*685A>G | |
| NM_001134296.2:c.*685A>G | NP_001127768.1:n.*685A>G |