COSMIC:
COSM3750392 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15898804 (NFE)
Genomes Max Group AF
0.16047914 (NFE)
Exomes Max Group AF
0.15876098 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154429203G>A , CM000663.2:g.154429203G>A | GRCh38 |
| NC_000001.10:g.154401679G>A , CM000663.1:g.154401679G>A | GRCh37 |
| NC_000001.9:g.152668303G>A | NCBI36 |
| NG_012087.1:g.29011G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622330.5:c.93G>A | ENSP00000477739.1:p.Ala31= | |
| ENST00000368485.8:c.93G>A MANE Select | ENSP00000357470.3:p.Ala31= | |
| ENST00000344086.8:c.93G>A | ENSP00000340589.4:p.Ala31= | |
| ENST00000368485.7:c.93G>A | ENSP00000357470.3:p.Ala31= | |
| ENST00000512471.1:c.93G>A | ENSP00000423184.1:p.Ala31= | |
| ENST00000622330.4:c.93G>A | ENSP00000477739.1:p.Ala31= | |
| NM_000565.3:c.93G>A | NP_000556.1:p.Ala31= | |
| NM_001206866.1:c.93G>A | NP_001193795.1:p.Ala31= | |
| NM_181359.2:c.93G>A | NP_852004.1:p.Ala31= | |
| XM_005245139.1:c.93G>A | XP_005245196.1:p.Ala31= | |
| XM_005245140.1:c.93G>A | XP_005245197.1:p.Ala31= | |
| XM_006711298.1:c.93G>A | XP_006711361.1:p.Ala31= | |
| XM_006711299.2:c.93G>A | XP_006711362.1:p.Ala31= | |
| XM_005245139.2:c.93G>A | XP_005245196.1:p.Ala31= | |
| XM_005245140.3:c.93G>A | XP_005245197.1:p.Ala31= | |
| XM_006711298.2:c.93G>A | XP_006711361.1:p.Ala31= | |
| XM_006711299.4:c.93G>A | XP_006711362.1:p.Ala31= | |
| XM_017001199.2:c.93G>A | XP_016856688.1:p.Ala31= | |
| XM_017001200.2:c.93G>A | XP_016856689.1:p.Ala31= | |
| XM_017001201.2:c.93G>A | XP_016856690.1:p.Ala31= | |
| NM_000565.4:c.93G>A MANE Select | NP_000556.1:p.Ala31= | |
| NM_181359.3:c.93G>A | NP_852004.1:p.Ala31= | |
| NM_001206866.2:c.93G>A | NP_001193795.1:p.Ala31= | |
| NM_001382769.1:c.93G>A | NP_001369698.1:p.Ala31= | |
| NM_001382770.1:c.93G>A | NP_001369699.1:p.Ala31= | |
| NM_001382771.1:c.93G>A | NP_001369700.1:p.Ala31= | |
| NM_001382772.1:c.93G>A | NP_001369701.1:p.Ala31= | |
| NM_001382773.1:c.93G>A | NP_001369702.1:p.Ala31= | |
| NM_001382774.1:c.93G>A | NP_001369703.1:p.Ala31= |