COSMIC:
COSM4407279 (not active)
Revel Score:
ENST00000265293 (MANE Select)
0.091
ENST00000521089
0.091
ENST00000524038
0.091
ENST00000393895
0.069
ENST00000524228
0.069
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26192132 (AFR)
Genomes Max Group AF
0.25753598 (AFR)
Exomes Max Group AF
0.26450828 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168431367T>G , CM000667.2:g.168431367T>G | GRCh38 |
| NC_000005.9:g.167858372T>G , CM000667.1:g.167858372T>G | GRCh37 |
| NC_000005.8:g.167790950T>G | NCBI36 |
| NG_016712.1:g.144308T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265293.9:c.2203T>G MANE Select | ENSP00000265293.4:p.Ser735Ala | |
| ENST00000265293.8:c.2203T>G | ENSP00000265293.4:p.Ser735Ala | |
| ENST00000393895.7:c.2087T>G | ||
| ENST00000521089.5:c.2203T>G | ENSP00000427772.1:p.Ser735Ala | |
| ENST00000522140.1:n.4T>G | ||
| ENST00000524038.5:c.181T>G | ENSP00000428084.1:p.Ser61Ala | |
| ENST00000524093.5:n.286T>G | ||
| ENST00000524228.5:c.1532T>G | ||
| ENST00000619752.1:c.4T>G | ENSP00000483898.1:p.Ser2Ala | |
| NM_001161661.1:c.2203T>G | NP_001155133.1:p.Ser735Ala | |
| NM_001161662.1:c.2203T>G | NP_001155134.1:p.Ser735Ala | |
| NM_015238.2:c.2203T>G | NP_056053.1:p.Ser735Ala | |
| XM_005265850.1:c.2203T>G | XP_005265907.1:p.Ser735Ala | |
| XM_005265853.1:c.2203T>G | XP_005265910.1:p.Ser735Ala | |
| XM_011534485.1:c.2386T>G | XP_011532787.1:p.Ser796Ala | |
| XM_011534486.1:c.2386T>G | XP_011532788.1:p.Ser796Ala | |
| XM_011534487.1:c.2386T>G | XP_011532789.1:p.Ser796Ala | |
| XM_011534488.1:c.2386T>G | XP_011532790.1:p.Ser796Ala | |
| XM_011534489.1:c.2386T>G | XP_011532791.1:p.Ser796Ala | |
| XM_011534490.1:c.2386T>G | XP_011532792.1:p.Ser796Ala | |
| XM_011534491.1:c.2386T>G | XP_011532793.1:p.Ser796Ala | |
| XM_005265853.2:c.2203T>G | XP_005265910.1:p.Ser735Ala | |
| XM_017009276.1:c.2386T>G | XP_016864765.1:p.Ser796Ala | |
| XM_017009278.1:c.1921T>G | XP_016864767.1:p.Ser641Ala | |
| NM_001161661.2:c.2203T>G | NP_001155133.1:p.Ser735Ala | |
| NM_001161662.2:c.2203T>G | NP_001155134.1:p.Ser735Ala | |
| NM_015238.3:c.2203T>G MANE Select | NP_056053.1:p.Ser735Ala |