Revel Score:
ENST00000403665 (MANE Select)
0.671
ENST00000264692
0.671
ENST00000264691
0.644
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287720C>A , CM000666.2:g.186287720C>A | GRCh38 |
| NC_000004.11:g.187208874C>A , CM000666.1:g.187208874C>A | GRCh37 |
| NC_000004.10:g.187445868C>A | NCBI36 |
| NG_008051.1:g.26757C>A , LRG_583:g.26757C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1613C>A (F11) MANE Select | ENSP00000384957.2:p.Pro538His | |
| ENST00000264691.4:c.213C>A (F11) | ||
| ENST00000264692.8:c.1451C>A (F11) | ENSP00000264692.5:p.Pro484His | |
| ENST00000403665.6:c.1613C>A (F11) | ENSP00000384957.2:p.Pro538His | |
| ENST00000503841.1:n.132C>A (F11) | ||
| NM_000128.3:c.1613C>A , LRG_583t1:c.1613C>A (F11) | NP_000119.1:p.Pro538His | |
| NR_033900.1:n.1066+708G>T (F11-AS1) | ||
| XM_005262821.2:c.1616C>A (F11) | XP_005262878.1:p.Pro539His | |
| XM_005262822.2:c.1520C>A (F11) | XP_005262879.1:p.Pro507His | |
| XM_005262823.2:c.1346C>A (F11) | XP_005262880.1:p.Pro449His | |
| XM_006714137.1:c.1568C>A (F11) | XP_006714200.1:p.Pro523His | |
| XR_938707.1:n.1925C>A (F11) | ||
| XM_005262821.4:c.1616C>A (F11) | XP_005262878.1:p.Pro539His | |
| XM_005262822.4:c.1520C>A (F11) | XP_005262879.1:p.Pro507His | |
| XM_005262823.4:c.1346C>A (F11) | XP_005262880.1:p.Pro449His | |
| XM_006714137.3:c.1568C>A (F11) | XP_006714200.1:p.Pro523His | |
| NM_000128.4:c.1613C>A (F11) MANE Select | NP_000119.1:p.Pro538His |