Revel Score:
ENST00000261623 (MANE Select)
0.882
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88646773C>T , CM000678.2:g.88646773C>T | GRCh38 |
| NC_000016.9:g.88713181C>T , CM000678.1:g.88713181C>T | GRCh37 |
| NC_000016.8:g.87240682C>T | NCBI36 |
| NG_007291.1:g.9277G>A , LRG_52:g.9277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565588.6:c.269G>A | ENSP00000455537.2:p.Arg90Gln | |
| ENST00000696156.1:c.203+328G>A | ENSP00000512446.1:n.203+328G>A | |
| ENST00000696157.1:c.269G>A | ENSP00000512447.1:p.Arg90Gln | |
| ENST00000696158.1:c.269G>A | ENSP00000512448.1:p.Arg90Gln | |
| ENST00000696159.1:c.269G>A | ENSP00000512449.1:p.Arg90Gln | |
| ENST00000696160.1:c.269G>A | ENSP00000512450.1:p.Arg90Gln | |
| ENST00000696161.1:c.399G>A | ENSP00000512451.1:p.Ser133= | |
| ENST00000696162.1:c.269G>A | ENSP00000512452.1:p.Arg90Gln | |
| ENST00000696163.1:c.218G>A | ENSP00000512453.1:p.Arg73Gln | |
| ENST00000261623.8:c.269G>A MANE Select | ENSP00000261623.3:p.Arg90Gln | |
| ENST00000261623.7:c.269G>A | ENSP00000261623.3:p.Arg90Gln | |
| ENST00000562209.1:n.549G>A | ||
| ENST00000563526.5:n.244G>A | ||
| ENST00000565588.5:c.53G>A | ||
| ENST00000566229.1:c.258G>A | ENSP00000457060.1:p.Ser86= | |
| ENST00000566534.5:n.291G>A | ||
| ENST00000567174.5:c.269G>A | ENSP00000454951.1:p.Arg90Gln | |
| ENST00000568278.1:c.269G>A | ENSP00000455506.1:p.Arg90Gln | |
| ENST00000569359.5:c.269G>A | ENSP00000456079.1:p.Arg90Gln | |
| NM_000101.3:c.269G>A | NP_000092.2:p.Arg90Gln | |
| XM_011522905.1:c.269G>A | XP_011521207.1:p.Arg90Gln | |
| XM_011522905.3:c.269G>A | XP_011521207.1:p.Arg90Gln | |
| NM_000101.4:c.269G>A MANE Select | NP_000092.2:p.Arg90Gln |