dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08845808 (EAS)
Genomes Max Group AF
0.07172917 (EAS)
Exomes Max Group AF
0.08995221 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.114623621A>G , CM000666.2:g.114623621A>G | GRCh38 |
| NC_000004.11:g.115544777A>G , CM000666.1:g.115544777A>G | GRCh37 |
| NC_000004.10:g.115764226A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310836.11:c.741A>G MANE Select | ENSP00000311648.6:p.Ala247= | |
| ENST00000310836.10:c.741A>G | ENSP00000311648.6:p.Ala247= | |
| ENST00000394511.3:c.741A>G | ENSP00000378019.3:p.Ala247= | |
| NM_001128174.1:c.741A>G | NP_001121646.1:p.Ala247= | |
| NM_003360.3:c.741A>G | NP_003351.2:p.Ala247= | |
| XM_006714302.2:c.741A>G | XP_006714365.1:p.Ala247= | |
| XM_006714303.2:c.741A>G | XP_006714366.1:p.Ala247= | |
| XM_011532232.1:c.741A>G | XP_011530534.1:p.Ala247= | |
| NM_001128174.2:c.741A>G | NP_001121646.1:p.Ala247= | |
| NM_001322112.1:c.741A>G | NP_001309041.1:p.Ala247= | |
| NM_001322113.1:c.741A>G | NP_001309042.1:p.Ala247= | |
| NM_001322114.1:c.741A>G | NP_001309043.1:p.Ala247= | |
| NM_003360.4:c.741A>G | NP_003351.2:p.Ala247= | |
| XM_024454207.1:c.741A>G | XP_024309975.1:p.Ala247= | |
| XM_024454208.1:c.741A>G | XP_024309976.1:p.Ala247= | |
| XM_024454209.1:c.741A>G | XP_024309977.1:p.Ala247= | |
| XM_024454210.1:c.741A>G | XP_024309978.1:p.Ala247= | |
| XM_024454211.1:c.741A>G | XP_024309979.1:p.Ala247= | |
| NM_001128174.3:c.741A>G MANE Select | NP_001121646.2:p.Ala247= | |
| NM_001322114.2:c.741A>G | NP_001309043.2:p.Ala247= | |
| NM_003360.5:c.741A>G | NP_003351.3:p.Ala247= | |
| NM_001322112.2:c.741A>G | NP_001309041.2:p.Ala247= | |
| NM_001322113.2:c.741A>G | NP_001309042.2:p.Ala247= |