COSMIC:
COSM4156391 (not active)
Revel Score:
ENST00000262738
0.038
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5832995 (AFR)
Genomes Max Group AF
0.57628516 (AFR)
Exomes Max Group AF
0.58774591 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46384624T>C , CM000684.2:g.46384624T>C | GRCh38 |
| NC_000022.10:g.46780521T>C , CM000684.1:g.46780521T>C | GRCh37 |
| NC_000022.9:g.45159185T>C | NCBI36 |
| NG_030466.1:g.157547A>G | |
| NG_030466.2:g.157547A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262738.9:c.6802A>G | ENSP00000262738.3:p.Thr2268Ala | |
| ENST00000674341.1:n.1879A>G | ||
| ENST00000674379.1:n.159A>G | ||
| ENST00000674500.2:c.6802A>G MANE Select | ENSP00000501367.2:p.Thr2268Ala | |
| ENST00000262738.7:c.6802A>G | ENSP00000262738.3:p.Thr2268Ala | |
| NM_014246.1:c.6802A>G | NP_055061.1:p.Thr2268Ala | |
| XM_006724383.2:c.6802A>G | XP_006724446.1:p.Thr2268Ala | |
| XM_011530554.1:c.3295A>G | XP_011528856.1:p.Thr1099Ala | |
| XM_011530555.1:c.3199A>G | XP_011528857.1:p.Thr1067Ala | |
| XM_006724383.3:c.6802A>G | XP_006724446.1:p.Thr2268Ala | |
| XM_011530554.2:c.3295A>G | XP_011528856.1:p.Thr1099Ala | |
| XM_011530555.2:c.3199A>G | XP_011528857.1:p.Thr1067Ala | |
| NM_014246.2:c.6802A>G | NP_055061.1:p.Thr2268Ala | |
| NM_014246.3:c.6802A>G | NP_055061.1:p.Thr2268Ala | |
| NM_001378328.1:c.6802A>G MANE Select | NP_001365257.1:p.Thr2268Ala | |
| NM_014246.4:c.6802A>G | NP_055061.1:p.Thr2268Ala |