Revel Score:
ENST00000270642 (MANE Select)
0.090
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51323875G>C , CM000681.2:g.51323875G>C | GRCh38 |
| NC_000019.9:g.51827129G>C , CM000681.1:g.51827129G>C | GRCh37 |
| NC_000019.8:g.56518941G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270642.9:c.372G>C MANE Select | ENSP00000270642.8:p.Gln124His | |
| ENST00000270642.8:c.372G>C | ENSP00000270642.8:p.Gln124His | |
| NM_001101372.1:c.372G>C | NP_001094842.1:p.Gln124His | |
| NM_001101372.2:c.372G>C | NP_001094842.1:p.Gln124His | |
| NM_001101372.3:c.372G>C MANE Select | NP_001094842.1:p.Gln124His |