COSMIC:
COSM150421 (not active)
COSM4004373 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49811257 (EAS)
Genomes Max Group AF
0.45284994 (EAS)
Exomes Max Group AF
0.50231541 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150857799G>A , CM000669.2:g.150857799G>A | GRCh38 |
| NC_000007.13:g.150554887G>A , CM000669.1:g.150554887G>A | GRCh37 |
| NC_000007.12:g.150185820G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.1329G>A MANE Select | ENSP00000354193.4:p.Ala443= | |
| ENST00000360937.8:c.1329G>A | ENSP00000354193.4:p.Ala443= | |
| ENST00000416793.6:c.1329G>A | ENSP00000411613.2:p.Ala443= | |
| ENST00000467291.5:c.1329G>A | ENSP00000418328.1:p.Ala443= | |
| ENST00000493429.5:c.1329G>A | ENSP00000418614.1:p.Ala443= | |
| ENST00000619575.1:c.1326G>A | ENSP00000481717.1:p.Ala442= | |
| ENST00000622116.4:c.-94G>A | ENSP00000481520.1:n.-94G>A | |
| NM_001091.3:c.1329G>A | NP_001082.2:p.Ala443= | |
| NM_001272072.1:c.1329G>A | NP_001259001.1:p.Ala443= | |
| XM_011516008.1:c.1329G>A | XP_011514310.1:p.Ala443= | |
| XM_011516009.1:c.1329G>A | XP_011514311.1:p.Ala443= | |
| XR_928169.1:n.296-16354C>T | ||
| XR_928170.1:n.425+10817C>T | ||
| XR_928171.1:n.298-16354C>T | ||
| XM_017011944.1:c.1329G>A | XP_016867433.1:p.Ala443= | |
| XM_017011945.1:c.1329G>A | XP_016867434.1:p.Ala443= | |
| XM_017011946.2:c.1329G>A | XP_016867435.1:p.Ala443= | |
| XM_017011947.1:c.1329G>A | XP_016867436.1:p.Ala443= | |
| XR_928169.2:n.302-16354C>T | ||
| XR_928171.2:n.302-16354C>T | ||
| NM_001091.4:c.1329G>A MANE Select | NP_001082.2:p.Ala443= | |
| NM_001272072.2:c.1329G>A | NP_001259001.1:p.Ala443= |