Revel Score:
ENST00000264691
0.338
ENST00000403665 (MANE Select)
0.940
ENST00000264692
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288523G>C , CM000666.2:g.186288523G>C | GRCh38 |
| NC_000004.11:g.187209677G>C , CM000666.1:g.187209677G>C | GRCh37 |
| NC_000004.10:g.187446671G>C | NCBI36 |
| NG_008051.1:g.27560G>C , LRG_583:g.27560G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1787G>C (F11) MANE Select | ENSP00000384957.2:p.Gly596Ala | |
| ENST00000264691.4:c.387G>C (F11) | ||
| ENST00000264692.8:c.1625G>C (F11) | ENSP00000264692.5:p.Gly542Ala | |
| ENST00000403665.6:c.1787G>C (F11) | ENSP00000384957.2:p.Gly596Ala | |
| ENST00000503841.1:n.306G>C (F11) | ||
| NM_000128.3:c.1787G>C , LRG_583t1:c.1787G>C (F11) | NP_000119.1:p.Gly596Ala | |
| NR_033900.1:n.971C>G (F11-AS1) | ||
| XM_005262821.2:c.1790G>C (F11) | XP_005262878.1:p.Gly597Ala | |
| XM_005262822.2:c.1694G>C (F11) | XP_005262879.1:p.Gly565Ala | |
| XM_005262823.2:c.1520G>C (F11) | XP_005262880.1:p.Gly507Ala | |
| XM_006714137.1:c.1742G>C (F11) | XP_006714200.1:p.Gly581Ala | |
| XM_005262821.4:c.1790G>C (F11) | XP_005262878.1:p.Gly597Ala | |
| XM_005262822.4:c.1694G>C (F11) | XP_005262879.1:p.Gly565Ala | |
| XM_005262823.4:c.1520G>C (F11) | XP_005262880.1:p.Gly507Ala | |
| XM_006714137.3:c.1742G>C (F11) | XP_006714200.1:p.Gly581Ala | |
| NM_000128.4:c.1787G>C (F11) MANE Select | NP_000119.1:p.Gly596Ala |