COSMIC:
COSN17138861 (not active)
COSN17144601 (not active)
COSN17149098 (not active)
COSN17150017 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45547297 (AFR)
Genomes Max Group AF
0.45547297 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37954986T>G , CM000665.2:g.37954986T>G | GRCh38 |
| NC_000003.11:g.37996477T>G , CM000665.1:g.37996477T>G | GRCh37 |
| NC_000003.10:g.37971481T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416688.6:c.234+7775T>G | ENSP00000404977.2:n.234+7775T>G | |
| ENST00000436654.2:c.235-2125T>G | ENSP00000409600.2:n.235-2125T>G | |
| ENST00000273179.10:c.235-2125T>G MANE Select | ENSP00000273179.5:n.235-2125T>G | |
| ENST00000273179.9:c.235-2125T>G | ENSP00000273179.5:n.235-2125T>G | |
| ENST00000310189.3:n.494-5T>G | ||
| ENST00000443503.6:c.234+7775T>G | ENSP00000398288.2:n.234+7775T>G | |
| ENST00000486978.5:n.247-2125T>G | ||
| NM_001008392.1:c.235-2125T>G | NP_001008393.1:n.235-2125T>G | |
| NM_005808.2:c.234+7775T>G | NP_005799.2:n.234+7775T>G | |
| XM_017005519.1:c.235-2125T>G | XP_016861008.1:n.235-2125T>G | |
| XM_017005520.1:c.190-2125T>G | XP_016861009.1:n.190-2125T>G | |
| NM_001008392.2:c.235-2125T>G MANE Select | NP_001008393.1:n.235-2125T>G | |
| NM_005808.3:c.234+7775T>G | NP_005799.2:n.234+7775T>G |