COSMIC:
COSM3826796 (not active)
COSM3826797 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52162127 (AFR)
Genomes Max Group AF
0.5216619 (AFR)
Exomes Max Group AF
0.36779546 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136133838T>G , CM000667.2:g.136133838T>G | GRCh38 |
| NC_000005.9:g.135469527T>G , CM000667.1:g.135469527T>G | GRCh37 |
| NC_000005.8:g.135497426T>G | NCBI36 |
| NG_032037.1:g.5992T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509297.6:c.-366T>G (SMAD5) | ENSP00000426696.2:n.-366T>G | |
| ENST00000545279.6:c.-245+876T>G (SMAD5) MANE Select | ENSP00000441954.2:n.-245+876T>G | |
| ENST00000506223.1:c.-291T>G (SMAD5) | ENSP00000422954.1:n.-291T>G | |
| ENST00000507118.5:c.-170+876T>G (SMAD5) | ENSP00000425749.1:n.-170+876T>G | |
| ENST00000509297.5:c.-366T>G (SMAD5) | ENSP00000426696.1:n.-366T>G | |
| ENST00000509962.5:n.250+365T>G (SMAD5) | ||
| ENST00000511116.5:c.-329+876T>G (SMAD5) | ENSP00000424279.1:n.-329+876T>G | |
| ENST00000514777.1:n.59+876T>G (SMAD5) | ||
| ENST00000515005.1:c.-245+365T>G (SMAD5) | ENSP00000427330.1:n.-245+365T>G | |
| ENST00000545279.5:c.-245+876T>G (SMAD5) | ENSP00000441954.2:n.-245+876T>G | |
| ENST00000545620.5:c.-170+876T>G (SMAD5) | ENSP00000446474.2:n.-170+876T>G | |
| NM_001001419.2:c.-329+876T>G (SMAD5) | NP_001001419.1:n.-329+876T>G | |
| NM_001001420.2:c.-170+876T>G (SMAD5) | NP_001001420.1:n.-170+876T>G | |
| NM_005903.6:c.-245+876T>G (SMAD5) | NP_005894.3:n.-245+876T>G | |
| NR_026763.1:n.1053A>C (SMAD5-AS1) | ||
| XM_017009470.2:c.-329+365T>G (SMAD5) | XP_016864959.1:n.-329+365T>G | |
| XM_024446046.1:c.-245+365T>G (SMAD5) | XP_024301814.1:n.-245+365T>G | |
| XM_024446047.1:c.-366T>G (SMAD5) | XP_024301815.1:n.-366T>G | |
| NM_005903.7:c.-245+876T>G (SMAD5) MANE Select | NP_005894.3:n.-245+876T>G | |
| NM_001001419.3:c.-329+876T>G (SMAD5) | NP_001001419.1:n.-329+876T>G | |
| NM_001001420.3:c.-170+876T>G (SMAD5) | NP_001001420.1:n.-170+876T>G |