Revel Score:
ENST00000253496 (MANE Select)
0.345
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404243T>A , CM000667.2:g.177404243T>A | GRCh38 |
| NC_000005.9:g.176831244T>A , CM000667.1:g.176831244T>A | GRCh37 |
| NC_000005.8:g.176763850T>A | NCBI36 |
| NG_007568.1:g.10334A>T , LRG_145:g.10334A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*637A>T (F12) | ENSP00000512476.1:n.*637A>T | |
| ENST00000696193.1:c.*1341A>T (F12) | ENSP00000512477.1:n.*1341A>T | |
| ENST00000696194.1:c.*561A>T (F12) | ENSP00000512478.1:n.*561A>T | |
| ENST00000696195.1:n.3774A>T (F12) | ||
| ENST00000696200.1:n.1074A>T (F12) | ||
| ENST00000696201.1:c.971A>T (F12) | ENSP00000512482.1:p.Lys324Met | |
| ENST00000253496.4:c.971A>T (F12) MANE Select | ENSP00000253496.3:p.Lys324Met | |
| ENST00000253496.3:c.971A>T (F12) | ENSP00000253496.3:p.Lys324Met | |
| ENST00000502598.5:c.-45+717T>A (GRK6) | ENSP00000422873.1:n.-45+717T>A | |
| ENST00000502854.5:n.230A>T (F12) | ||
| ENST00000503736.1:n.343A>T (F12) | ||
| ENST00000510358.5:n.230A>T (F12) | ||
| NM_000505.3:c.971A>T , LRG_145t1:c.971A>T (F12) | NP_000496.2:p.Lys324Met | |
| XM_011534461.1:c.971A>T (F12) | XP_011532763.1:p.Lys324Met | |
| XM_011534462.1:c.635A>T (F12) | XP_011532764.1:p.Lys212Met | |
| XM_011534462.2:c.635A>T (F12) | XP_011532764.1:p.Lys212Met | |
| XM_017009773.2:c.1416+7169T>A (SLC34A1) | XP_016865262.1:n.1416+7169T>A | |
| NM_000505.4:c.971A>T (F12) MANE Select | NP_000496.2:p.Lys324Met |