Revel Score:
ENST00000392365
0.065
ENST00000233156 (MANE Select)
0.065
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02531164 (MID)
Genomes Max Group AF
0.02196195 (NFE)
Exomes Max Group AF
0.02592482 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.187466977C>T , CM000664.2:g.187466977C>T | GRCh38 |
| NC_000002.11:g.188331704C>T , CM000664.1:g.188331704C>T | GRCh37 |
| NC_000002.10:g.188039949C>T | NCBI36 |
| NG_029714.2:g.103784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233156.9:c.874G>A (TFPI) MANE Select | ENSP00000233156.3:p.Val292Met | |
| ENST00000233156.7:c.874G>A (TFPI) | ENSP00000233156.3:p.Val292Met | |
| ENST00000392365.5:c.874G>A (TFPI) | ENSP00000376172.1:p.Val292Met | |
| NM_006287.4:c.874G>A (TFPI) | NP_006278.1:p.Val292Met | |
| XM_005246818.1:c.874G>A (TFPI) | XP_005246875.1:p.Val292Met | |
| XM_005246819.1:c.874G>A (TFPI) | XP_005246876.1:p.Val292Met | |
| XM_006712720.2:c.874G>A (TFPI) | XP_006712783.1:p.Val292Met | |
| XM_011511707.1:c.874G>A (TFPI) | XP_011510009.1:p.Val292Met | |
| XM_011511708.1:c.874G>A (TFPI) | XP_011510010.1:p.Val292Met | |
| XM_011511709.1:c.874G>A (TFPI) | XP_011510011.1:p.Val292Met | |
| XR_923674.1:n.515+4961C>T (CALCRL-AS1) | ||
| XR_923675.1:n.515+4961C>T (CALCRL-AS1) | ||
| XR_923676.1:n.515+4961C>T (CALCRL-AS1) | ||
| XR_923677.1:n.515+4961C>T (CALCRL-AS1) | ||
| XR_923681.1:n.515+4961C>T (CALCRL-AS1) | ||
| NM_001329239.1:c.874G>A (TFPI) | NP_001316168.1:p.Val292Met | |
| NM_001329240.1:c.874G>A (TFPI) | NP_001316169.1:p.Val292Met | |
| NM_001329241.1:c.874G>A (TFPI) | NP_001316170.1:p.Val292Met | |
| NM_006287.5:c.874G>A (TFPI) | NP_006278.1:p.Val292Met | |
| XM_006712720.4:c.874G>A (TFPI) | XP_006712783.1:p.Val292Met | |
| XM_011511709.3:c.874G>A (TFPI) | XP_011510011.1:p.Val292Met | |
| XM_024453058.1:c.874G>A (TFPI) | XP_024308826.1:p.Val292Met | |
| XR_001739821.1:n.1766+4961C>T (CALCRL-AS1) | ||
| XR_001739822.1:n.1758+4961C>T (CALCRL-AS1) | ||
| XR_001739823.1:n.3420-32529C>T (CALCRL-AS1) | ||
| NM_006287.6:c.874G>A (TFPI) MANE Select | NP_006278.1:p.Val292Met | |
| NM_001329239.2:c.874G>A (TFPI) | NP_001316168.1:p.Val292Met | |
| NM_001329240.2:c.874G>A (TFPI) | NP_001316169.1:p.Val292Met | |
| NM_001329241.2:c.874G>A (TFPI) | NP_001316170.1:p.Val292Met |