Revel Score:
ENST00000367429 (MANE Select)
0.170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747287G>C , CM000663.2:g.196747287G>C | GRCh38 |
| NC_000001.10:g.196716417G>C , CM000663.1:g.196716417G>C | GRCh37 |
| NC_000001.9:g.194983040G>C | NCBI36 |
| NG_007259.1:g.100277G>C , LRG_47:g.100277G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4698G>C | ||
| ENST00000695970.1:c.3496G>C | ENSP00000512297.1:p.Glu1166Gln | |
| ENST00000695971.1:c.3649G>C | ENSP00000512298.1:p.Glu1217Gln | |
| ENST00000695972.1:c.*747G>C | ENSP00000512299.1:n.*747G>C | |
| ENST00000695973.1:c.*2034G>C | ENSP00000512300.1:n.*2034G>C | |
| ENST00000695974.1:c.3493G>C | ENSP00000512301.1:p.Glu1165Gln | |
| ENST00000695975.1:c.*1797G>C | ENSP00000512302.1:n.*1797G>C | |
| ENST00000695976.1:c.3481G>C | ENSP00000512303.1:p.Glu1161Gln | |
| ENST00000695981.1:c.3580+90G>C | ENSP00000512306.1:n.3580+90G>C | |
| ENST00000695984.1:c.1678G>C | ENSP00000512309.1:p.Glu560Gln | |
| ENST00000695986.1:c.*3321G>C | ENSP00000512311.1:n.*3321G>C | |
| ENST00000695990.1:n.704G>C | ||
| ENST00000696026.1:c.*1952G>C | ENSP00000512335.1:n.*1952G>C | |
| ENST00000696027.1:c.3664G>C | ENSP00000512336.1:p.Glu1222Gln | |
| ENST00000696028.1:c.3598G>C | ENSP00000512337.1:p.Glu1200Gln | |
| ENST00000696029.1:c.3664G>C | ENSP00000512338.1:p.Glu1222Gln | |
| ENST00000696031.1:c.*3188G>C | ENSP00000512340.1:n.*3188G>C | |
| ENST00000696032.1:c.3580+90G>C | ENSP00000512341.1:n.3580+90G>C | |
| ENST00000696033.1:c.1160-32510G>C | ENSP00000512342.1:n.1160-32510G>C | |
| ENST00000367429.9:c.3670G>C MANE Select | ENSP00000356399.4:p.Glu1224Gln | |
| ENST00000367429.8:c.3670G>C | ENSP00000356399.4:p.Glu1224Gln | |
| ENST00000466229.5:n.6768G>C | ||
| NM_000186.3:c.3670G>C , LRG_47t1:c.3670G>C | NP_000177.2:p.Glu1224Gln | |
| XR_001737134.2:n.3856G>C | ||
| NM_000186.4:c.3670G>C MANE Select | NP_000177.2:p.Glu1224Gln |