Revel Score:
ENST00000369409
0.941
ENST00000537497
0.941
ENST00000369407
0.941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119737177G>C , CM000663.2:g.119737177G>C | GRCh38 |
| NC_000001.10:g.120279800G>C , CM000663.1:g.120279800G>C | GRCh37 |
| NC_000001.9:g.120081323G>C | NCBI36 |
| NG_009188.1:g.30382G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.856G>C | ENSP00000358417.5:p.Ala286Pro | |
| ENST00000641023.2:c.856G>C MANE Select | ENSP00000493175.1:p.Ala286Pro | |
| ENST00000641074.1:c.856G>C | ENSP00000493446.1:p.Ala286Pro | |
| ENST00000641115.1:c.856G>C | ENSP00000493264.1:p.Ala286Pro | |
| ENST00000641213.1:c.*509G>C | ENSP00000493079.1:n.*509G>C | |
| ENST00000641314.1:n.841G>C | ||
| ENST00000641375.1:c.*692G>C | ENSP00000493089.1:n.*692G>C | |
| ENST00000641597.1:c.856G>C | ENSP00000493382.1:p.Ala286Pro | |
| ENST00000641756.1:c.*600G>C | ENSP00000493147.1:n.*600G>C | |
| ENST00000641811.1:c.612G>C | ||
| ENST00000641891.1:c.*682G>C | ENSP00000493288.1:n.*682G>C | |
| ENST00000641927.1:n.796G>C | ||
| ENST00000641947.1:c.856G>C | ENSP00000492994.1:p.Ala286Pro | |
| ENST00000642021.1:n.978G>C | ||
| ENST00000369407.3:c.754G>C | ENSP00000358415.3:p.Ala252Pro | |
| ENST00000369409.8:c.856G>C | ENSP00000358417.4:p.Ala286Pro | |
| NM_006623.3:c.856G>C | NP_006614.2:p.Ala286Pro | |
| XM_011541226.1:c.1078G>C | XP_011539528.1:p.Ala360Pro | |
| XM_011541227.1:c.1000G>C | XP_011539529.1:p.Ala334Pro | |
| XM_011541228.1:c.967G>C | XP_011539530.1:p.Ala323Pro | |
| XM_011541229.1:c.793G>C | XP_011539531.1:p.Ala265Pro | |
| XM_011541230.1:c.571G>C | XP_011539532.1:p.Ala191Pro | |
| XM_011541231.1:c.562G>C | XP_011539533.1:p.Ala188Pro | |
| XM_011541226.2:c.1078G>C | XP_011539528.1:p.Ala360Pro | |
| XM_011541227.2:c.1000G>C | XP_011539529.1:p.Ala334Pro | |
| XM_011541228.2:c.967G>C | XP_011539530.1:p.Ala323Pro | |
| XM_011541231.2:c.562G>C | XP_011539533.1:p.Ala188Pro | |
| XM_024446338.1:c.967G>C | XP_024302106.1:p.Ala323Pro | |
| NM_006623.4:c.856G>C MANE Select | NP_006614.2:p.Ala286Pro |