COSMIC:
COSM3759594 (not active)
Revel Score:
ENST00000273353
0.149
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30219873 (NFE)
Genomes Max Group AF
0.30205311 (NFE)
Exomes Max Group AF
0.30202037 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.108428881T>C , CM000665.2:g.108428881T>C | GRCh38 |
| NC_000003.11:g.108147728T>C , CM000665.1:g.108147728T>C | GRCh37 |
| NC_000003.10:g.109630418T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273353.5:c.3313A>G | ENSP00000273353.4:p.Thr1105Ala | |
| ENST00000689784.1:c.2332A>G | ENSP00000509841.1:p.Thr778Ala | |
| ENST00000693548.1:c.3313A>G MANE Select | ENSP00000508967.1:p.Thr1105Ala | |
| ENST00000273353.4:c.3373A>G | ENSP00000273353.3:p.Thr1125Ala | |
| ENST00000273353.3:c.3373A>G | ENSP00000273353.3:p.Thr1125Ala | |
| ENST00000478998.5:n.1365A>G | ||
| NM_014981.1:c.3373A>G | NP_055796.1:p.Thr1125Ala | |
| XM_011512559.1:c.3373A>G | XP_011510861.1:p.Thr1125Ala | |
| XM_011512559.2:c.3373A>G | XP_011510861.1:p.Thr1125Ala | |
| XM_017005922.1:c.2332A>G | XP_016861411.1:p.Thr778Ala | |
| NM_014981.2:c.3373A>G | NP_055796.1:p.Thr1125Ala | |
| NM_014981.3:c.3313A>G MANE Select | NP_055796.2:p.Thr1105Ala |