Revel Score:
ENST00000307522 (MANE Select)
0.207
ENST00000540252
0.207
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46412768G>C , CM000681.2:g.46412768G>C | GRCh38 |
| NC_000019.9:g.46916025G>C , CM000681.1:g.46916025G>C | GRCh37 |
| NC_000019.8:g.51607865G>C | NCBI36 |
| NG_031956.1:g.5895C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697726.1:c.253C>G | ENSP00000513420.1:p.Arg85Gly | |
| ENST00000307522.5:c.43C>G MANE Select | ENSP00000303158.3:p.Arg15Gly | |
| ENST00000307522.3:c.43C>G | ENSP00000303158.3:p.Arg15Gly | |
| NM_032040.4:c.43C>G | NP_114429.2:p.Arg15Gly | |
| NM_032040.5:c.43C>G MANE Select | NP_114429.2:p.Arg15Gly |