Revel Score:
ENST00000267415 (MANE Select)
0.850
ENST00000540705
0.850
ENST00000399423
0.850
ENST00000538777
0.850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240609T>C , CM000676.2:g.24240609T>C | GRCh38 |
| NC_000014.8:g.24709815T>C , CM000676.1:g.24709815T>C | GRCh37 |
| NC_000014.7:g.23779655T>C | NCBI36 |
| NG_016650.1:g.7066A>G | |
| NG_054634.1:g.13193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1174A>G | ||
| ENST00000557921.3:c.763A>G | ENSP00000453157.3:p.Arg255Gly | |
| ENST00000699682.1:n.1261A>G | ||
| ENST00000699683.1:n.1311A>G | ||
| ENST00000699684.1:c.*464A>G | ENSP00000514523.1:n.*464A>G | |
| ENST00000699685.1:n.1075A>G | ||
| ENST00000699686.1:c.664A>G | ENSP00000514524.1:p.Arg222Gly | |
| ENST00000699687.1:c.766A>G | ENSP00000514525.1:p.Arg256Gly | |
| ENST00000699688.1:n.1071A>G | ||
| ENST00000699689.1:n.1427A>G | ||
| ENST00000699690.1:n.1624A>G | ||
| ENST00000699691.1:n.1768A>G | ||
| ENST00000699693.1:n.1288A>G | ||
| ENST00000699694.1:n.1530A>G | ||
| ENST00000699695.1:c.*243A>G | ENSP00000514526.1:n.*243A>G | |
| ENST00000699696.1:n.1174A>G | ||
| ENST00000699697.1:c.871A>G | ENSP00000514527.1:p.Arg291Gly | |
| ENST00000699698.1:n.792A>G | ||
| ENST00000699699.1:n.1195A>G | ||
| ENST00000699700.1:n.1318A>G | ||
| ENST00000699701.1:c.*251A>G | ENSP00000514528.1:n.*251A>G | |
| ENST00000267415.12:c.871A>G MANE Select | ENSP00000267415.7:p.Arg291Gly | |
| ENST00000557921.2:c.763A>G | ENSP00000453157.2:p.Arg255Gly | |
| ENST00000646753.1:c.766A>G | ENSP00000494065.1:p.Arg256Gly | |
| ENST00000267415.11:c.871A>G | ENSP00000267415.7:p.Arg291Gly | |
| ENST00000399423.8:c.871A>G | ENSP00000382350.4:p.Arg291Gly | |
| ENST00000558476.5:c.433A>G | ENSP00000452724.1:p.Arg145Gly | |
| ENST00000558566.1:c.*243A>G | ENSP00000453025.1:n.*243A>G | |
| ENST00000559019.1:c.*243A>G | ENSP00000453675.1:n.*243A>G | |
| ENST00000559549.1:n.597A>G | ||
| ENST00000559969.5:c.757+70A>G | ||
| ENST00000626689.2:c.*243A>G | ENSP00000486681.1:n.*243A>G | |
| NM_001099274.1:c.871A>G | NP_001092744.1:p.Arg291Gly | |
| NM_012461.2:c.871A>G | NP_036593.2:p.Arg291Gly | |
| XM_005267528.2:c.871A>G | XP_005267585.1:p.Arg291Gly | |
| XM_005267529.2:c.766A>G | XP_005267586.1:p.Arg256Gly | |
| NM_001099274.2:c.871A>G | NP_001092744.1:p.Arg291Gly | |
| NM_001363668.1:c.766A>G | NP_001350597.1:p.Arg256Gly | |
| NM_012461.3:c.871A>G | NP_036593.2:p.Arg291Gly | |
| XM_011536642.2:c.*251A>G | XP_011534944.1:n.*251A>G | |
| XM_017021216.2:c.229A>G | XP_016876705.1:p.Arg77Gly | |
| XM_017021217.1:c.229A>G | XP_016876706.1:p.Arg77Gly | |
| NM_001099274.3:c.871A>G MANE Select | NP_001092744.1:p.Arg291Gly | |
| NM_001363668.2:c.766A>G | NP_001350597.1:p.Arg256Gly |