COSMIC:
COSM3750278 (not active)
COSM3750279 (not active)
COSM3750280 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13841157 (EAS)
Genomes Max Group AF
0.1188133 (NFE)
Exomes Max Group AF
0.1421392 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.118884831G>A , CM000663.2:g.118884831G>A | GRCh38 |
| NC_000001.10:g.119427454G>A , CM000663.1:g.119427454G>A | GRCh37 |
| NC_000001.9:g.119228977G>A | NCBI36 |
| NG_013361.1:g.109726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369429.5:c.1710C>T MANE Select | ENSP00000358437.3:p.Ser570= | |
| ENST00000207157.7:c.1392C>T | ENSP00000207157.3:p.Ser464= | |
| ENST00000369429.3:c.1710C>T | ENSP00000358437.3:p.Ser570= | |
| ENST00000449873.5:c.894C>T | ENSP00000398625.1:p.Ser298= | |
| NM_152380.2:c.1392C>T | NP_689593.2:p.Ser464= | |
| XM_005271161.2:c.1809C>T | XP_005271218.1:p.Ser603= | |
| XM_005271162.1:c.1710C>T | XP_005271219.1:p.Ser570= | |
| XM_011542052.1:c.864C>T | XP_011540354.1:p.Ser288= | |
| NM_001330677.1:c.1710C>T | NP_001317606.1:p.Ser570= | |
| XM_005271161.4:c.1809C>T | XP_005271218.1:p.Ser603= | |
| XM_011542052.2:c.864C>T | XP_011540354.1:p.Ser288= | |
| NM_001330677.2:c.1710C>T MANE Select | NP_001317606.1:p.Ser570= | |
| NM_152380.3:c.1392C>T | NP_689593.2:p.Ser464= |