Revel Score:
ENST00000374866 (MANE Select)
1.000
ENST00000452536
1.000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189043249C>G , CM000664.2:g.189043249C>G | GRCh38 |
| NC_000002.11:g.189907975C>G , CM000664.1:g.189907975C>G | GRCh37 |
| NC_000002.10:g.189616220C>G | NCBI36 |
| NG_011799.1:g.141631G>C | |
| NG_011799.2:g.141631G>C | |
| NG_011799.3:g.187053G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3373G>C MANE Select | ENSP00000364000.3:p.Gly1125Arg | |
| ENST00000374866.7:c.3373G>C | ENSP00000364000.3:p.Gly1125Arg | |
| ENST00000618828.1:c.2212G>C | ENSP00000482184.1:p.Gly738Arg | |
| NM_000393.3:c.3373G>C | NP_000384.2:p.Gly1125Arg | |
| XM_011510573.1:c.3235G>C | XP_011508875.1:p.Gly1079Arg | |
| NM_000393.4:c.3373G>C | NP_000384.2:p.Gly1125Arg | |
| XM_011510573.3:c.3235G>C | XP_011508875.1:p.Gly1079Arg | |
| NM_000393.5:c.3373G>C MANE Select | NP_000384.2:p.Gly1125Arg |