COSMIC:
COSM149030 (not active)
Revel Score:
ENST00000409676
0.120
ENST00000339091
0.120
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37338562 (MID)
Genomes Max Group AF
0.34976748 (AFR)
Exomes Max Group AF
0.37491152 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.187478770T>C , CM000664.2:g.187478770T>C | GRCh38 |
| NC_000002.11:g.188343497T>C , CM000664.1:g.188343497T>C | GRCh37 |
| NC_000002.10:g.188051742T>C | NCBI36 |
| NG_029714.2:g.91991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233156.9:c.628+5354A>G (TFPI) MANE Select | ENSP00000233156.3:n.628+5354A>G | |
| ENST00000233156.7:c.628+5354A>G (TFPI) | ENSP00000233156.3:n.628+5354A>G | |
| ENST00000339091.8:c.662A>G (TFPI) | ENSP00000342306.4:p.Asn221Ser | |
| ENST00000392365.5:c.628+5354A>G (TFPI) | ENSP00000376172.1:n.628+5354A>G | |
| ENST00000409676.5:c.662A>G (TFPI) | ENSP00000386344.1:p.Asn221Ser | |
| ENST00000426055.5:c.628+5354A>G (TFPI) | ENSP00000397248.1:n.628+5354A>G | |
| ENST00000435414.5:c.589+5354A>G (TFPI) | ENSP00000409177.1:n.589+5354A>G | |
| ENST00000481132.5:n.7469+5354A>G (TFPI) | ||
| NM_001032281.2:c.662A>G (TFPI) | NP_001027452.1:p.Asn221Ser | |
| NM_006287.4:c.628+5354A>G (TFPI) | NP_006278.1:n.628+5354A>G | |
| XM_005246818.1:c.628+5354A>G (TFPI) | XP_005246875.1:n.628+5354A>G | |
| XM_005246819.1:c.628+5354A>G (TFPI) | XP_005246876.1:n.628+5354A>G | |
| XM_005246820.1:c.662A>G (TFPI) | XP_005246877.1:p.Asn221Ser | |
| XM_006712720.2:c.628+5354A>G (TFPI) | XP_006712783.1:n.628+5354A>G | |
| XM_011511707.1:c.628+5354A>G (TFPI) | XP_011510009.1:n.628+5354A>G | |
| XM_011511708.1:c.628+5354A>G (TFPI) | XP_011510010.1:n.628+5354A>G | |
| XM_011511709.1:c.628+5354A>G (TFPI) | XP_011510011.1:n.628+5354A>G | |
| XR_923674.1:n.515+16754T>C (CALCRL-AS1) | ||
| XR_923675.1:n.515+16754T>C (CALCRL-AS1) | ||
| XR_923676.1:n.515+16754T>C (CALCRL-AS1) | ||
| XR_923677.1:n.515+16754T>C (CALCRL-AS1) | ||
| XR_923681.1:n.515+16754T>C (CALCRL-AS1) | ||
| NM_001032281.3:c.662A>G (TFPI) | NP_001027452.1:p.Asn221Ser | |
| NM_001318941.2:c.662A>G (TFPI) | NP_001305870.1:p.Asn221Ser | |
| NM_001329239.1:c.628+5354A>G (TFPI) | NP_001316168.1:n.628+5354A>G | |
| NM_001329240.1:c.628+5354A>G (TFPI) | NP_001316169.1:n.628+5354A>G | |
| NM_001329241.1:c.628+5354A>G (TFPI) | NP_001316170.1:n.628+5354A>G | |
| NM_006287.5:c.628+5354A>G (TFPI) | NP_006278.1:n.628+5354A>G | |
| XM_006712720.4:c.628+5354A>G (TFPI) | XP_006712783.1:n.628+5354A>G | |
| XM_011511709.3:c.628+5354A>G (TFPI) | XP_011510011.1:n.628+5354A>G | |
| XM_024453058.1:c.628+5354A>G (TFPI) | XP_024308826.1:n.628+5354A>G | |
| XM_024453059.1:c.662A>G (TFPI) | XP_024308827.1:p.Asn221Ser | |
| XM_024453060.1:c.662A>G (TFPI) | XP_024308828.1:p.Asn221Ser | |
| XM_024453061.1:c.662A>G (TFPI) | XP_024308829.1:p.Asn221Ser | |
| XM_024453062.1:c.662A>G (TFPI) | XP_024308830.1:p.Asn221Ser | |
| XR_001739821.1:n.1766+16754T>C (CALCRL-AS1) | ||
| XR_001739822.1:n.1758+16754T>C (CALCRL-AS1) | ||
| XR_001739823.1:n.3420-20736T>C (CALCRL-AS1) | ||
| NM_006287.6:c.628+5354A>G (TFPI) MANE Select | NP_006278.1:n.628+5354A>G | |
| NM_001329239.2:c.628+5354A>G (TFPI) | NP_001316168.1:n.628+5354A>G | |
| NM_001329240.2:c.628+5354A>G (TFPI) | NP_001316169.1:n.628+5354A>G | |
| NM_001329241.2:c.628+5354A>G (TFPI) | NP_001316170.1:n.628+5354A>G | |
| NM_001032281.4:c.662A>G (TFPI) | NP_001027452.1:p.Asn221Ser | |
| NM_001318941.3:c.662A>G (TFPI) | NP_001305870.1:p.Asn221Ser |