Revel Score:
ENST00000367375
0.179
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000582 (SAS)
Exomes Max Group AF
0.00000613 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49075573G>T , CM000685.2:g.49075573G>T | GRCh38 |
| NC_000023.10:g.48933232G>T , CM000685.1:g.48933232G>T | GRCh37 |
| NC_000023.9:g.48820176G>T | NCBI36 |
| NG_033004.1:g.29828C>A | |
| NG_033004.2:g.30598C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.697C>A MANE Select | ENSP00000365551.3:p.Arg233= | |
| ENST00000322995.13:c.730C>A | ENSP00000365543.5:p.Arg244= | |
| ENST00000356463.7:c.700C>A | ENSP00000348848.3:p.Arg234= | |
| ENST00000367375.8:c.476C>A | ||
| ENST00000376358.4:c.391C>A | ENSP00000365536.3:p.Arg131= | |
| ENST00000376368.7:c.700C>A | ENSP00000365546.2:p.Arg234= | |
| ENST00000376372.8:c.697C>A | ENSP00000365551.3:p.Arg233= | |
| ENST00000396681.9:c.592C>A | ENSP00000379913.5:p.Arg198= | |
| ENST00000433252.7:n.271C>A | ||
| ENST00000465806.6:n.1854C>A | ||
| ENST00000473974.5:c.697C>A | ENSP00000417211.1:p.Arg233= | |
| ENST00000475880.6:c.595C>A | ENSP00000418919.2:p.Arg199= | |
| ENST00000475977.2:c.193C>A | ENSP00000417754.2:p.Arg65= | |
| ENST00000480412.2:n.302C>A | ||
| ENST00000485908.6:c.592C>A | ENSP00000419897.1:p.Arg198= | |
| ENST00000634559.1:c.496C>A | ENSP00000488986.1:p.Arg166= | |
| ENST00000634736.1:c.391C>A | ENSP00000489561.1:p.Arg131= | |
| ENST00000634838.1:c.697C>A | ENSP00000489268.1:p.Arg233= | |
| ENST00000634852.1:n.394C>A | ||
| ENST00000634944.1:c.697C>A | ENSP00000488972.1:p.Arg233= | |
| ENST00000635003.1:c.496C>A | ENSP00000489080.1:p.Arg166= | |
| ENST00000635344.1:c.*348C>A | ENSP00000489553.1:n.*348C>A | |
| ENST00000635666.1:c.625C>A | ENSP00000489128.1:p.Arg209= | |
| NM_001029896.1:c.697C>A | NP_001025067.1:p.Arg233= | |
| NM_007075.3:c.700C>A | NP_009006.2:p.Arg234= | |
| NM_001029896.2:c.697C>A MANE Select | NP_001025067.1:p.Arg233= | |
| NM_007075.4:c.700C>A | NP_009006.2:p.Arg234= |