ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02294583 (EAS)
Genomes Max Group AF
0.02803474 (EAS)
Exomes Max Group AF
0.02089831 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103479464A>G , CM000673.2:g.103479464A>G | GRCh38 |
| NC_000011.9:g.103350192A>G , CM000673.1:g.103350192A>G | GRCh37 |
| NC_000011.8:g.102855402A>G | NCBI36 |
| NG_016423.1:g.375033A>G | |
| NG_016423.2:g.375034A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.*211A>G MANE Plus Clinical | ENSP00000497174.1:n.*211A>G | |
| ENST00000375735.7:c.*211A>G MANE Select | ENSP00000364887.2:n.*211A>G | |
| ENST00000650373.1:c.*211A>G | ENSP00000497174.1:n.*211A>G | |
| ENST00000375735.6:c.*211A>G | ENSP00000364887.2:n.*211A>G | |
| ENST00000527252.1:n.687A>G | ||
| ENST00000528670.5:c.2318A>G | ENSP00000433451.1:n.2318A>G | |
| NM_001080463.1:c.*211A>G | NP_001073932.1:n.*211A>G | |
| NM_001377.2:c.*211A>G | NP_001368.2:n.*211A>G | |
| XM_006718903.2:c.*211A>G | XP_006718966.1:n.*211A>G | |
| XM_017018291.1:c.*211A>G | XP_016873780.1:n.*211A>G | |
| XM_017018292.1:c.*211A>G | XP_016873781.1:n.*211A>G | |
| NM_001377.3:c.*211A>G MANE Select | NP_001368.2:n.*211A>G | |
| NM_001080463.2:c.*211A>G MANE Plus Clinical | NP_001073932.1:n.*211A>G |