COSMIC:
COSN17077317 (not active)
COSN17077488 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09579838 (AFR)
Genomes Max Group AF
0.09556767 (AFR)
Exomes Max Group AF
0.09436144 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641204C>T , CM000678.2:g.23641204C>T | GRCh38 |
| NC_000016.9:g.23652525C>T , CM000678.1:g.23652525C>T | GRCh37 |
| NC_000016.8:g.23560026C>T | NCBI36 |
| NG_007406.1:g.5154G>A , LRG_308:g.5154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-899G>A | ENSP00000460666.3:n.-899G>A | |
| ENST00000565038.2:c.-47G>A | ENSP00000459882.2:n.-47G>A | |
| ENST00000566069.6:c.-47G>A | ENSP00000459237.2:n.-47G>A | |
| ENST00000697377.2:c.-286G>A | ENSP00000513286.2:n.-286G>A | |
| ENST00000697379.2:c.-192G>A | ENSP00000513287.2:n.-192G>A | |
| ENST00000561514.2:c.-1790G>A | ENSP00000460666.2:n.-1790G>A | |
| ENST00000697374.1:c.-1381G>A | ENSP00000513284.1:n.-1381G>A | |
| ENST00000697376.1:c.-1102G>A | ENSP00000513285.1:n.-1102G>A | |
| ENST00000697377.1:c.-1177G>A | ENSP00000513286.1:n.-1177G>A | |
| ENST00000697379.1:c.-1083G>A | ENSP00000513287.1:n.-1083G>A | |
| ENST00000697382.1:c.-1841G>A | ENSP00000513288.1:n.-1841G>A | |
| ENST00000697383.1:c.-47G>A | ENSP00000513289.1:n.-47G>A | |
| ENST00000697384.1:n.108G>A | ||
| ENST00000261584.9:c.-47G>A MANE Select | ENSP00000261584.4:n.-47G>A | |
| ENST00000261584.8:c.-47G>A | ENSP00000261584.4:n.-47G>A | |
| ENST00000567003.1:n.98G>A | ||
| ENST00000568219.5:c.-915G>A | ENSP00000454703.2:n.-915G>A | |
| NM_024675.3:c.-47G>A , LRG_308t1:c.-47G>A | NP_078951.2:n.-47G>A | |
| XM_011545948.1:c.-1066G>A | XP_011544250.1:n.-1066G>A | |
| XM_011545946.2:c.-899G>A | XP_011544248.1:n.-899G>A | |
| XM_011545947.2:c.-899G>A | XP_011544249.1:n.-899G>A | |
| XM_011545948.2:c.-1066G>A | XP_011544250.1:n.-1066G>A | |
| XM_017023671.1:c.-899G>A | XP_016879160.1:n.-899G>A | |
| XM_017023672.2:c.-47G>A | XP_016879161.1:n.-47G>A | |
| XM_017023673.2:c.-47G>A | XP_016879162.1:n.-47G>A | |
| NM_024675.4:c.-47G>A MANE Select | NP_078951.2:n.-47G>A |