COSMIC:
COSM1130565 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79187877 (EAS)
Genomes Max Group AF
0.76638879 (EAS)
Exomes Max Group AF
0.79302907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.14967968C>T , CM000683.2:g.14967968C>T | GRCh38 |
| NC_000021.8:g.16340289C>T , CM000683.1:g.16340289C>T | GRCh37 |
| NC_000021.7:g.15262160C>T | NCBI36 |
| NG_050643.1:g.102936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318948.7:c.225G>A MANE Select | ENSP00000327213.4:p.Gly75= | |
| ENST00000318948.6:c.225G>A | ENSP00000327213.4:p.Gly75= | |
| ENST00000400199.5:c.225G>A | ENSP00000383060.1:p.Gly75= | |
| ENST00000400202.5:c.225G>A | ENSP00000383063.1:p.Gly75= | |
| NM_003489.3:c.225G>A | NP_003480.2:p.Gly75= | |
| XM_005261063.2:c.225G>A | XP_005261120.1:p.Gly75= | |
| XM_005261065.2:c.225G>A | XP_005261122.1:p.Gly75= | |
| XM_011529747.1:c.225G>A | XP_011528049.1:p.Gly75= | |
| XM_011529748.1:c.225G>A | XP_011528050.1:p.Gly75= | |
| XM_011529749.1:c.225G>A | XP_011528051.1:p.Gly75= | |
| XM_011529750.1:c.225G>A | XP_011528052.1:p.Gly75= | |
| XM_011529751.1:c.225G>A | XP_011528053.1:p.Gly75= | |
| XM_011529752.1:c.225G>A | XP_011528054.1:p.Gly75= | |
| XM_005261063.3:c.225G>A | XP_005261120.1:p.Gly75= | |
| XM_005261065.3:c.225G>A | XP_005261122.1:p.Gly75= | |
| XM_011529748.2:c.225G>A | XP_011528050.1:p.Gly75= | |
| XM_011529749.2:c.225G>A | XP_011528051.1:p.Gly75= | |
| XM_011529751.2:c.225G>A | XP_011528053.1:p.Gly75= | |
| XM_017028473.1:c.225G>A | XP_016883962.1:p.Gly75= | |
| XM_017028474.1:c.225G>A | XP_016883963.1:p.Gly75= | |
| XM_017028475.1:c.225G>A | XP_016883964.1:p.Gly75= | |
| XM_017028476.1:c.225G>A | XP_016883965.1:p.Gly75= | |
| NM_003489.4:c.225G>A MANE Select | NP_003480.2:p.Gly75= |