Revel Score:
ENST00000357654 (MANE Select)
0.503
ENST00000412061
0.503
ENST00000354071
0.503
ENST00000352993
0.503
ENST00000346315
0.503
ENST00000351666
0.503
ENST00000309486
0.503
ENST00000468300
0.503
ENST00000393691
0.503
ENST00000471181
0.503
ENST00000493795
0.503
ENST00000491747
0.503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051069G>A , CM000679.2:g.43051069G>A | GRCh38 |
| NC_000017.10:g.41203086G>A , CM000679.1:g.41203086G>A | GRCh37 |
| NC_000017.9:g.38456612G>A | NCBI36 |
| NG_005905.2:g.166915C>T , LRG_292:g.166915C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5323C>T | ENSP00000417241.2:p.Pro1775Ser | |
| ENST00000470026.6:c.5326C>T | ENSP00000419274.2:p.Pro1776Ser | |
| ENST00000473961.6:c.5200C>T | ENSP00000420201.2:p.Pro1734Ser | |
| ENST00000476777.6:c.5320C>T | ENSP00000417554.2:p.Pro1774Ser | |
| ENST00000477152.6:c.5248C>T | ENSP00000419988.2:p.Pro1750Ser | |
| ENST00000478531.6:c.2014C>T | ENSP00000420412.2:p.Pro672Ser | |
| ENST00000489037.2:c.5248C>T | ENSP00000420781.2:p.Pro1750Ser | |
| ENST00000493919.6:c.1876C>T | ENSP00000418819.2:p.Pro626Ser | |
| ENST00000494123.6:c.5326C>T | ENSP00000419103.2:p.Pro1776Ser | |
| ENST00000497488.2:c.4438C>T | ENSP00000418986.2:p.Pro1480Ser | |
| ENST00000618469.2:c.5326C>T | ENSP00000478114.2:p.Pro1776Ser | |
| ENST00000634433.2:c.5203C>T | ENSP00000489431.2:p.Pro1735Ser | |
| ENST00000644379.2:c.5392C>T | ENSP00000496570.2:p.Pro1798Ser | |
| ENST00000644555.2:c.1876C>T | ENSP00000494614.2:p.Pro626Ser | |
| ENST00000652672.2:c.5185C>T | ENSP00000498906.2:p.Pro1729Ser | |
| ENST00000484087.6:c.1888C>T | ENSP00000419481.2:p.Pro630Ser | |
| ENST00000357654.9:c.5326C>T MANE Select | ENSP00000350283.3:p.Pro1776Ser | |
| ENST00000471181.7:c.5389C>T | ENSP00000418960.2:p.Pro1797Ser | |
| ENST00000644379.1:c.1713C>T | ||
| ENST00000352993.7:c.1900C>T | ENSP00000312236.5:p.Pro634Ser | |
| ENST00000357654.7:c.5326C>T | ENSP00000350283.3:p.Pro1776Ser | |
| ENST00000461221.5:c.*5109C>T | ENSP00000418548.1:n.*5109C>T | |
| ENST00000468300.5:c.2014C>T | ENSP00000417148.1:p.Pro672Ser | |
| ENST00000471181.6:c.5389C>T | ENSP00000418960.2:p.Pro1797Ser | |
| ENST00000491747.6:c.2014C>T | ENSP00000420705.2:p.Pro672Ser | |
| ENST00000493795.5:c.5185C>T | ENSP00000418775.1:p.Pro1729Ser | |
| ENST00000586385.5:c.256C>T | ENSP00000465818.1:p.Pro86Ser | |
| ENST00000591534.5:c.799C>T | ENSP00000467329.1:p.Pro267Ser | |
| ENST00000591849.5:c.-98-879C>T | ENSP00000465347.1:n.-98-879C>T | |
| NM_007294.3:c.5326C>T , LRG_292t1:c.5326C>T | NP_009225.1:p.Pro1776Ser | |
| NM_007297.3:c.5185C>T | NP_009228.2:p.Pro1729Ser | |
| NM_007298.3:c.2014C>T | NP_009229.2:p.Pro672Ser | |
| NM_007299.3:c.2014C>T | NP_009230.2:p.Pro672Ser | |
| NM_007300.3:c.5389C>T | NP_009231.2:p.Pro1797Ser | |
| NR_027676.1:n.5462C>T | ||
| NM_007294.4:c.5326C>T MANE Select | NP_009225.1:p.Pro1776Ser | |
| NM_007297.4:c.5185C>T | NP_009228.2:p.Pro1729Ser | |
| NM_007299.4:c.2014C>T | NP_009230.2:p.Pro672Ser | |
| NM_007300.4:c.5389C>T | NP_009231.2:p.Pro1797Ser | |
| NR_027676.2:n.5503C>T |