ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0033738 (NFE)
Genomes Max Group AF
0.00442069 (AMR)
Exomes Max Group AF
0.00336632 (NFE)
Revel Score:
ENST00000253496 (MANE Select)
0.099
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177405165G>C , CM000667.2:g.177405165G>C | GRCh38 |
| NC_000005.9:g.176832166G>C , CM000667.1:g.176832166G>C | GRCh37 |
| NC_000005.8:g.176764772G>C | NCBI36 |
| NG_007568.1:g.9412C>G , LRG_145:g.9412C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*84C>G (F12) | ENSP00000512476.1:n.*84C>G | |
| ENST00000696193.1:c.*643C>G (F12) | ENSP00000512477.1:n.*643C>G | |
| ENST00000696194.1:c.*8C>G (F12) | ENSP00000512478.1:n.*8C>G | |
| ENST00000696195.1:n.3076C>G (F12) | ||
| ENST00000696200.1:n.521C>G (F12) | ||
| ENST00000696201.1:c.418C>G (F12) | ENSP00000512482.1:p.Leu140Val | |
| ENST00000253496.4:c.418C>G (F12) MANE Select | ENSP00000253496.3:p.Leu140Val | |
| ENST00000253496.3:c.418C>G (F12) | ENSP00000253496.3:p.Leu140Val | |
| ENST00000502598.5:c.-45+1639G>C (GRK6) | ENSP00000422873.1:n.-45+1639G>C | |
| ENST00000506296.5:c.-45+608G>C (GRK6) | ENSP00000421055.1:n.-45+608G>C | |
| NM_000505.3:c.418C>G , LRG_145t1:c.418C>G (F12) | NP_000496.2:p.Leu140Val | |
| XM_011534461.1:c.418C>G (F12) | XP_011532763.1:p.Leu140Val | |
| XM_011534462.1:c.82C>G (F12) | XP_011532764.1:p.Leu28Val | |
| XM_011534462.2:c.82C>G (F12) | XP_011532764.1:p.Leu28Val | |
| XM_017009773.2:c.1417-6599G>C (SLC34A1) | XP_016865262.1:n.1417-6599G>C | |
| NM_000505.4:c.418C>G (F12) MANE Select | NP_000496.2:p.Leu140Val |