COSMIC:
COSM5947225 (not active)
COSM5947226 (not active)
Revel Score:
ENST00000278550 (MANE Select)
0.768
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00064861 (AFR)
Genomes Max Group AF
0.00049805 (AFR)
Exomes Max Group AF
0.00069499 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78702289C>T , CM000673.2:g.78702289C>T | GRCh38 |
| NC_000011.9:g.78413334C>T , CM000673.1:g.78413334C>T | GRCh37 |
| NC_000011.8:g.78090982C>T | NCBI36 |
| NG_051803.1:g.743363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.4324G>A MANE Select | ENSP00000278550.7:p.Ala1442Thr | |
| ENST00000278550.11:c.4324G>A | ENSP00000278550.7:p.Ala1442Thr | |
| ENST00000612046.4:c.4324G>A | ENSP00000483150.1:p.Ala1442Thr | |
| NM_001098816.2:c.4324G>A | NP_001092286.2:p.Ala1442Thr | |
| XM_011544924.1:c.4372G>A | XP_011543226.1:p.Ala1458Thr | |
| XM_011544925.1:c.4372G>A | XP_011543227.1:p.Ala1458Thr | |
| XM_011544927.1:c.4351G>A | XP_011543229.1:p.Ala1451Thr | |
| XM_011544928.1:c.4297G>A | XP_011543230.1:p.Ala1433Thr | |
| XM_011544929.1:c.4273G>A | XP_011543231.1:p.Ala1425Thr | |
| XM_011544930.1:c.4168G>A | XP_011543232.1:p.Ala1390Thr | |
| XM_011544931.1:c.3211G>A | XP_011543233.1:p.Ala1071Thr | |
| XM_011544932.1:c.1825G>A | XP_011543234.1:p.Ala609Thr | |
| XM_011544933.1:c.1768G>A | XP_011543235.1:p.Ala590Thr | |
| XM_011544934.1:c.223G>A | XP_011543236.1:p.Ala75Thr | |
| XM_011544933.3:c.1768G>A | XP_011543235.1:p.Ala590Thr | |
| XM_017017525.1:c.4399G>A | XP_016873014.1:p.Ala1467Thr | |
| XM_017017526.1:c.4324G>A | XP_016873015.1:p.Ala1442Thr | |
| NM_001098816.3:c.4324G>A MANE Select | NP_001092286.2:p.Ala1442Thr |