Revel Score:
ENST00000367429 (MANE Select)
0.795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747278G>C , CM000663.2:g.196747278G>C | GRCh38 |
| NC_000001.10:g.196716408G>C , CM000663.1:g.196716408G>C | GRCh37 |
| NC_000001.9:g.194983031G>C | NCBI36 |
| NG_007259.1:g.100268G>C , LRG_47:g.100268G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4689G>C | ||
| ENST00000695970.1:c.3487G>C | ENSP00000512297.1:p.Gly1163Arg | |
| ENST00000695971.1:c.3640G>C | ENSP00000512298.1:p.Gly1214Arg | |
| ENST00000695972.1:c.*738G>C | ENSP00000512299.1:n.*738G>C | |
| ENST00000695973.1:c.*2025G>C | ENSP00000512300.1:n.*2025G>C | |
| ENST00000695974.1:c.3484G>C | ENSP00000512301.1:p.Gly1162Arg | |
| ENST00000695975.1:c.*1788G>C | ENSP00000512302.1:n.*1788G>C | |
| ENST00000695976.1:c.3472G>C | ENSP00000512303.1:p.Gly1158Arg | |
| ENST00000695981.1:c.3580+81G>C | ENSP00000512306.1:n.3580+81G>C | |
| ENST00000695984.1:c.1669G>C | ENSP00000512309.1:p.Gly557Arg | |
| ENST00000695986.1:c.*3312G>C | ENSP00000512311.1:n.*3312G>C | |
| ENST00000695990.1:n.695G>C | ||
| ENST00000696026.1:c.*1943G>C | ENSP00000512335.1:n.*1943G>C | |
| ENST00000696027.1:c.3655G>C | ENSP00000512336.1:p.Gly1219Arg | |
| ENST00000696028.1:c.3589G>C | ENSP00000512337.1:p.Gly1197Arg | |
| ENST00000696029.1:c.3655G>C | ENSP00000512338.1:p.Gly1219Arg | |
| ENST00000696031.1:c.*3179G>C | ENSP00000512340.1:n.*3179G>C | |
| ENST00000696032.1:c.3580+81G>C | ENSP00000512341.1:n.3580+81G>C | |
| ENST00000696033.1:c.1160-32519G>C | ENSP00000512342.1:n.1160-32519G>C | |
| ENST00000367429.9:c.3661G>C MANE Select | ENSP00000356399.4:p.Gly1221Arg | |
| ENST00000367429.8:c.3661G>C | ENSP00000356399.4:p.Gly1221Arg | |
| ENST00000466229.5:n.6759G>C | ||
| NM_000186.3:c.3661G>C , LRG_47t1:c.3661G>C | NP_000177.2:p.Gly1221Arg | |
| XR_001737134.2:n.3847G>C | ||
| NM_000186.4:c.3661G>C MANE Select | NP_000177.2:p.Gly1221Arg |