gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004283 (AMR)
Genomes Max Group AF
0.00002259 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179824262A>G , CM000667.2:g.179824262A>G | GRCh38 |
| NC_000005.9:g.179251262A>G , CM000667.1:g.179251262A>G | GRCh37 |
| NC_000005.8:g.179183868A>G | NCBI36 |
| NG_011342.1:g.22875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.612A>G MANE Select | ENSP00000374455.4:p.Gly204= | |
| ENST00000360718.5:c.360A>G | ENSP00000353944.5:p.Gly120= | |
| ENST00000389805.8:c.612A>G | ENSP00000374455.4:p.Gly204= | |
| ENST00000422245.5:c.360A>G | ENSP00000394534.1:p.Gly120= | |
| ENST00000464493.5:n.507A>G | ||
| ENST00000466342.1:n.311A>G | ||
| ENST00000485412.1:n.604A>G | ||
| ENST00000510187.5:c.612A>G | ENSP00000424477.1:p.Gly204= | |
| ENST00000514093.5:c.360A>G | ENSP00000427308.1:p.Gly120= | |
| NM_001142298.1:c.360A>G | NP_001135770.1:p.Gly120= | |
| NM_001142299.1:c.360A>G | NP_001135771.1:p.Gly120= | |
| NM_003900.4:c.612A>G | NP_003891.1:p.Gly204= | |
| XM_017010010.1:c.360A>G | XP_016865499.1:p.Gly120= | |
| NM_003900.5:c.612A>G MANE Select | NP_003891.1:p.Gly204= | |
| NM_001142298.2:c.360A>G | NP_001135770.1:p.Gly120= | |
| NM_001142299.2:c.360A>G | NP_001135771.1:p.Gly120= |