Revel Score:
ENST00000155840 (MANE Select)
0.984
ENST00000335475
0.984
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583460G>C , CM000673.2:g.2583460G>C | GRCh38 |
| NC_000011.9:g.2604690G>C , CM000673.1:g.2604690G>C | GRCh37 |
| NC_000011.8:g.2561266G>C | NCBI36 |
| NG_008935.1:g.143470G>C , LRG_287:g.143470G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.686G>C | ENSP00000434560.2:p.Gly229Ala | |
| ENST00000646564.2:c.503G>C | ENSP00000495806.2:p.Gly168Ala | |
| ENST00000155840.12:c.947G>C MANE Select | ENSP00000155840.2:p.Gly316Ala | |
| ENST00000335475.6:c.566G>C | ENSP00000334497.5:p.Gly189Ala | |
| ENST00000646564.1:c.149G>C | ENSP00000495806.1:p.Gly50Ala | |
| ENST00000155840.9:c.947G>C | ENSP00000155840.2:p.Gly316Ala | |
| ENST00000335475.5:c.566G>C | ENSP00000334497.5:p.Gly189Ala | |
| NM_000218.2:c.947G>C , LRG_287t1:c.947G>C | NP_000209.2:p.Gly316Ala | |
| NM_181798.1:c.566G>C , LRG_287t2:c.566G>C | NP_861463.1:p.Gly189Ala | |
| NM_000218.3:c.947G>C MANE Select | NP_000209.2:p.Gly316Ala |