COSMIC:
COSM3765571 (not active)
Revel Score:
ENST00000270115 (MANE Select)
0.059
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88436903 (EAS)
Genomes Max Group AF
0.85027667 (EAS)
Exomes Max Group AF
0.88657675 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.554214G>C , CM000673.2:g.554214G>C | GRCh38 |
| NC_000011.9:g.554214G>C , CM000673.1:g.554214G>C | GRCh37 |
| NC_000011.8:g.544214G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270115.8:c.1567G>C MANE Select | ENSP00000270115.7:p.Asp523His | |
| ENST00000270115.7:c.1567G>C | ENSP00000270115.7:p.Asp523His | |
| NM_198075.3:c.1567G>C | NP_932341.1:p.Asp523His | |
| XM_005252775.2:c.1567G>C | XP_005252832.1:p.Asp523His | |
| XM_005252776.2:c.1390G>C | XP_005252833.1:p.Asp464His | |
| XM_006718132.2:c.1567G>C | XP_006718195.1:p.Asp523His | |
| XM_006718133.2:c.1567G>C | XP_006718196.1:p.Asp523His | |
| XM_006718135.2:c.*69G>C | XP_006718198.1:n.*69G>C | |
| XM_011519875.1:c.1567G>C | XP_011518177.1:p.Asp523His | |
| XM_011519876.1:c.1567G>C | XP_011518178.1:p.Asp523His | |
| XM_011519877.1:c.1567G>C | XP_011518179.1:p.Asp523His | |
| XM_011519875.2:c.1567G>C | XP_011518177.1:p.Asp523His | |
| XM_011519877.2:c.1567G>C | XP_011518179.1:p.Asp523His | |
| XM_017017167.1:c.1567G>C | XP_016872656.1:p.Asp523His | |
| XM_017017168.1:c.1567G>C | XP_016872657.1:p.Asp523His | |
| NM_198075.4:c.1567G>C MANE Select | NP_932341.1:p.Asp523His |