COSMIC:
COSN6436490 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2755884 (MID)
Genomes Max Group AF
0.25592389 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197662011G>A , CM000663.2:g.197662011G>A | GRCh38 |
| NC_000001.10:g.197631141G>A , CM000663.1:g.197631141G>A | GRCh37 |
| NC_000001.9:g.195897764G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620048.6:c.297-3642C>T MANE Select | ENSP00000479816.1:n.297-3642C>T | |
| ENST00000235453.8:c.267-3642C>T | ENSP00000235453.4:n.267-3642C>T | |
| ENST00000294737.11:c.297-3642C>T | ENSP00000294737.7:n.297-3642C>T | |
| ENST00000294738.5:n.439-3642C>T | ||
| ENST00000367396.7:c.297-3642C>T | ENSP00000356366.3:n.297-3642C>T | |
| ENST00000422998.1:c.189-3642C>T | ENSP00000410025.1:n.189-3642C>T | |
| ENST00000620048.4:c.297-3642C>T | ENSP00000479816.1:n.297-3642C>T | |
| NM_001195215.1:c.297-3642C>T | NP_001182144.1:n.297-3642C>T | |
| NM_001300858.1:c.267-3642C>T | NP_001287787.1:n.267-3642C>T | |
| NM_144977.4:c.297-3642C>T | NP_659414.2:n.297-3642C>T | |
| NR_125340.1:n.635-3642C>T | ||
| XM_005244931.2:c.297-3642C>T | XP_005244988.1:n.297-3642C>T | |
| XM_006711192.2:c.267-3642C>T | XP_006711255.1:n.267-3642C>T | |
| XM_006711193.2:c.267-3642C>T | XP_006711256.1:n.267-3642C>T | |
| XM_011509246.1:c.441-3642C>T | XP_011507548.1:n.441-3642C>T | |
| XM_011509247.1:c.441-3642C>T | XP_011507549.1:n.441-3642C>T | |
| XM_011509248.1:c.336-3642C>T | XP_011507550.1:n.336-3642C>T | |
| XM_011509249.1:c.267-3642C>T | XP_011507551.1:n.267-3642C>T | |
| XM_011509250.1:c.267-3642C>T | XP_011507552.1:n.267-3642C>T | |
| XM_011509251.1:c.441-3642C>T | XP_011507553.1:n.441-3642C>T | |
| XM_006711193.3:c.267-3642C>T | XP_006711256.1:n.267-3642C>T | |
| XM_011509246.2:c.441-3642C>T | XP_011507548.1:n.441-3642C>T | |
| XM_011509248.2:c.336-3642C>T | XP_011507550.1:n.336-3642C>T | |
| XM_011509249.2:c.267-3642C>T | XP_011507551.1:n.267-3642C>T | |
| XM_011509251.3:c.441-3642C>T | XP_011507553.1:n.441-3642C>T | |
| XM_017000470.1:c.267-3642C>T | XP_016855959.1:n.267-3642C>T | |
| XM_017000471.1:c.267-3642C>T | XP_016855960.1:n.267-3642C>T | |
| XM_024453626.1:c.-247-3642C>T | XP_024309394.1:n.-247-3642C>T | |
| XM_024453627.1:c.-450-3642C>T | XP_024309395.1:n.-450-3642C>T | |
| NM_001195215.2:c.297-3642C>T MANE Select | NP_001182144.1:n.297-3642C>T | |
| NM_001300858.2:c.267-3642C>T | NP_001287787.1:n.267-3642C>T | |
| NM_144977.5:c.297-3642C>T | NP_659414.2:n.297-3642C>T | |
| NR_125340.2:n.622-3642C>T |