COSMIC:
COSM6330071 (not active)
COSM6330072 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20589811 (AFR)
Genomes Max Group AF
0.2015872 (AFR)
Exomes Max Group AF
0.20872547 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81306075G>A , CM000677.2:g.81306075G>A | GRCh38 |
| NC_000015.9:g.81598416G>A , CM000677.1:g.81598416G>A | GRCh37 |
| NC_000015.8:g.79385471G>A | NCBI36 |
| NG_029933.1:g.114198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302987.10:c.3729G>A | ENSP00000302935.5:p.Arg1243= | |
| ENST00000706926.1:c.3588G>A | ENSP00000516648.1:p.Arg1196= | |
| ENST00000302987.9:c.3729G>A | ENSP00000302935.5:p.Arg1243= | |
| ENST00000683961.1:c.3588G>A MANE Select | ENSP00000508085.1:p.Arg1196= | |
| ENST00000302987.8:c.3588G>A | ENSP00000302935.4:p.Arg1196= | |
| ENST00000360547.9:c.*2765G>A | ENSP00000456972.1:n.*2765G>A | |
| ENST00000394652.6:c.1485G>A | ENSP00000378147.2:p.Arg495= | |
| ENST00000394660.6:c.3588G>A | ENSP00000378155.2:p.Arg1196= | |
| ENST00000558332.3:c.1499G>A | ||
| ENST00000558857.5:c.1702G>A | ENSP00000453131.1:n.1702G>A | |
| ENST00000559342.1:n.432G>A | ||
| ENST00000559388.4:c.1485G>A | ENSP00000458125.2:p.Arg495= | |
| ENST00000559953.1:n.330G>A | ||
| ENST00000560115.5:c.3558G>A | ||
| NM_001172128.1:c.3588G>A | NP_001165599.1:p.Arg1196= | |
| NM_004513.5:c.1485G>A | NP_004504.3:p.Arg495= | |
| NM_172217.3:c.3588G>A | NP_757366.2:p.Arg1196= | |
| XM_005254342.2:c.3729G>A | XP_005254399.1:p.Arg1243= | |
| XM_005254346.3:c.1485G>A | XP_005254403.1:p.Arg495= | |
| XM_011521518.1:c.3450G>A | XP_011519820.1:p.Arg1150= | |
| XM_011521519.1:c.3588G>A | XP_011519821.1:p.Arg1196= | |
| XM_011521520.1:c.3588G>A | XP_011519822.1:p.Arg1196= | |
| XR_931805.1:n.3765G>A | ||
| NM_001352684.1:c.1758G>A | NP_001339613.1:p.Arg586= | |
| NM_001352685.1:c.3078G>A | NP_001339614.1:p.Arg1026= | |
| NM_001352686.1:c.3741G>A | NP_001339615.1:p.Arg1247= | |
| NM_172217.4:c.3588G>A | NP_757366.2:p.Arg1196= | |
| NR_148035.1:n.3800G>A | ||
| NM_001172128.2:c.3588G>A | NP_001165599.1:p.Arg1196= | |
| NM_001352684.2:c.1758G>A | NP_001339613.1:p.Arg586= | |
| NM_001352685.2:c.3078G>A | NP_001339614.1:p.Arg1026= | |
| NM_004513.6:c.1485G>A | NP_004504.3:p.Arg495= | |
| NM_172217.5:c.3588G>A MANE Select | NP_757366.2:p.Arg1196= | |
| NR_148035.2:n.3799G>A | ||
| NM_001352686.2:c.3741G>A | NP_001339615.1:p.Arg1247= |