COSMIC:
COSM3758644 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58739547 (EAS)
Genomes Max Group AF
0.58871649 (EAS)
Exomes Max Group AF
0.58532754 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54158989C>T , CM000682.2:g.54158989C>T | GRCh38 |
| NC_000020.10:g.52775528C>T , CM000682.1:g.52775528C>T | GRCh37 |
| NC_000020.9:g.52208935C>T | NCBI36 |
| NG_008334.1:g.19989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.1125G>A MANE Select | ENSP00000216862.3:p.Pro375= | |
| ENST00000216862.7:c.1125G>A | ENSP00000216862.3:p.Pro375= | |
| ENST00000395954.3:c.699G>A | ENSP00000379284.3:p.Pro233= | |
| ENST00000395955.7:c.1125G>A | ENSP00000379285.3:p.Pro375= | |
| NM_000782.4:c.1125G>A | NP_000773.2:p.Pro375= | |
| NM_001128915.1:c.1125G>A | NP_001122387.1:p.Pro375= | |
| XM_005260304.3:c.1125G>A | XP_005260361.1:p.Pro375= | |
| XM_005260304.5:c.1125G>A | XP_005260361.1:p.Pro375= | |
| XM_017027691.2:c.1125G>A | XP_016883180.1:p.Pro375= | |
| XM_017027692.2:c.1125G>A | XP_016883181.1:p.Pro375= | |
| XM_017027693.2:c.1125G>A | XP_016883182.1:p.Pro375= | |
| NM_000782.5:c.1125G>A MANE Select | NP_000773.2:p.Pro375= | |
| NM_001128915.2:c.1125G>A | NP_001122387.1:p.Pro375= |