COSMIC:
COSM4162731 (not active)
Revel Score:
ENST00000262577 (MANE Select)
0.091
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9254628 (EAS)
Genomes Max Group AF
0.90525891 (EAS)
Exomes Max Group AF
0.92574427 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143538013T>C , CM000670.2:g.143538013T>C | GRCh38 |
| NC_000008.10:g.144620183T>C , CM000670.1:g.144620183T>C | GRCh37 |
| NC_000008.9:g.144691326T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262577.6:c.1354A>G MANE Select | ENSP00000262577.5:p.Ser452Gly | |
| ENST00000262577.5:c.1354A>G | ENSP00000262577.5:p.Ser452Gly | |
| NM_015117.2:c.1354A>G | NP_055932.2:p.Ser452Gly | |
| XM_006716536.2:c.1540A>G | XP_006716599.2:p.Ser514Gly | |
| XM_011516943.1:c.1396A>G | XP_011515245.1:p.Ser466Gly | |
| XM_011516944.1:c.1396A>G | XP_011515246.1:p.Ser466Gly | |
| XR_928313.1:n.1484A>G | ||
| XM_006716536.3:c.1540A>G | XP_006716599.2:p.Ser514Gly | |
| XM_011516943.2:c.1396A>G | XP_011515245.1:p.Ser466Gly | |
| XM_011516944.2:c.1396A>G | XP_011515246.1:p.Ser466Gly | |
| XM_017013248.1:c.1738A>G | XP_016868737.1:p.Ser580Gly | |
| XM_017013249.1:c.1738A>G | XP_016868738.1:p.Ser580Gly | |
| XR_928313.3:n.1498A>G | ||
| NM_015117.3:c.1354A>G MANE Select | NP_055932.2:p.Ser452Gly |