Revel Score:
ENST00000219240 (MANE Select)
0.963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72017043G>C , CM000678.2:g.72017043G>C | GRCh38 |
| NC_000016.9:g.72050942G>C , CM000678.1:g.72050942G>C | GRCh37 |
| NC_000016.8:g.70608443G>C | NCBI36 |
| NG_016271.1:g.13300G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.454G>C MANE Select | ENSP00000219240.4:p.Gly152Arg | |
| ENST00000219240.8:c.454G>C | ENSP00000219240.4:p.Gly152Arg | |
| ENST00000571288.6:c.803G>C | ||
| ENST00000571392.1:n.1421G>C | ||
| ENST00000572003.5:n.274G>C | ||
| ENST00000572887.5:c.454G>C | ENSP00000461848.1:p.Gly152Arg | |
| ENST00000573843.1:n.417G>C | ||
| ENST00000573922.5:n.250G>C | ||
| ENST00000574309.5:c.450G>C | ||
| ENST00000576145.1:c.370G>C | ENSP00000464333.1:p.Gly124Arg | |
| NM_001361.4:c.454G>C | NP_001352.2:p.Gly152Arg | |
| XM_005255827.2:c.370G>C | XP_005255884.1:p.Gly124Arg | |
| XM_005255828.3:c.46G>C | XP_005255885.1:p.Gly16Arg | |
| XM_005255829.2:c.25G>C | XP_005255886.1:p.Gly9Arg | |
| XM_005255827.4:c.370G>C | XP_005255884.1:p.Gly124Arg | |
| XM_005255829.4:c.25G>C | XP_005255886.1:p.Gly9Arg | |
| XM_017022990.2:c.127G>C | XP_016878479.1:p.Gly43Arg | |
| NM_001361.5:c.454G>C MANE Select | NP_001352.2:p.Gly152Arg |