COSMIC:
COSM3999426 (not active)
COSM3999427 (not active)
Revel Score:
ENST00000298845
0.256
ENST00000337425
0.256
ENST00000380365
0.256
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08946851 (SAS)
Genomes Max Group AF
0.09119195 (SAS)
Exomes Max Group AF
0.08895891 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94469770G>A , CM000676.2:g.94469770G>A | GRCh38 |
| NC_000014.8:g.94936107G>A , CM000676.1:g.94936107G>A | GRCh37 |
| NC_000014.7:g.94005860G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298845.12:c.71C>T | ENSP00000298845.8:p.Ala24Val | |
| ENST00000337425.10:c.125C>T | ENSP00000337133.5:p.Ala42Val | |
| ENST00000546329.2:c.-67-103C>T | ENSP00000445476.2:n.-67-103C>T | |
| ENST00000674164.1:c.125C>T | ENSP00000501328.1:p.Ala42Val | |
| ENST00000674397.2:c.71C>T MANE Select | ENSP00000501517.1:p.Ala24Val | |
| ENST00000298845.11:c.125C>T | ENSP00000298845.7:p.Ala42Val | |
| ENST00000337425.9:c.125C>T | ENSP00000337133.5:p.Ala42Val | |
| ENST00000380365.7:c.71C>T | ENSP00000369723.3:p.Ala24Val | |
| ENST00000424550.6:c.-19-304C>T | ENSP00000409012.2:n.-19-304C>T | |
| ENST00000448305.6:c.-67-103C>T | ENSP00000414092.2:n.-67-103C>T | |
| ENST00000538527.5:c.207C>T | ENSP00000441511.1:p.Gly69= | |
| ENST00000539349.1:n.563C>T | ||
| ENST00000546329.1:c.120-103C>T | ENSP00000445476.1:n.120-103C>T | |
| NM_001042518.1:c.125C>T | NP_001035983.1:p.Ala42Val | |
| NM_001284275.1:c.120-103C>T | NP_001271204.1:n.120-103C>T | |
| NM_001284276.1:c.-19-304C>T | NP_001271205.1:n.-19-304C>T | |
| NM_175739.3:c.125C>T | NP_783866.2:p.Ala42Val | |
| XM_011536713.1:c.71C>T | XP_011535015.1:p.Ala24Val | |
| XM_011536714.1:c.71C>T | XP_011535016.1:p.Ala24Val | |
| XM_011536715.1:c.71C>T | XP_011535017.1:p.Ala24Val | |
| XM_011536716.1:c.-67-103C>T | XP_011535018.1:n.-67-103C>T | |
| XM_011536717.1:c.-67-103C>T | XP_011535019.1:n.-67-103C>T | |
| XM_011536714.2:c.71C>T | XP_011535016.1:p.Ala24Val | |
| XM_011536715.2:c.71C>T | XP_011535017.1:p.Ala24Val | |
| XM_011536716.2:c.-67-103C>T | XP_011535018.1:n.-67-103C>T | |
| NM_001042518.2:c.71C>T | NP_001035983.2:p.Ala24Val | |
| NM_001284275.2:c.-67-103C>T | NP_001271204.2:n.-67-103C>T | |
| NM_001284276.2:c.-19-304C>T | NP_001271205.1:n.-19-304C>T | |
| NM_175739.4:c.71C>T MANE Select | NP_783866.3:p.Ala24Val |