Revel Score:
ENST00000306087 (MANE Select)
0.405
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.137765337C>G , CM000665.2:g.137765337C>G | GRCh38 |
| NC_000003.11:g.137484179C>G , CM000665.1:g.137484179C>G | GRCh37 |
| NC_000003.10:g.138966869C>G | NCBI36 |
| NG_050752.1:g.6046C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306087.3:c.553C>G MANE Select | ENSP00000305343.1:p.Gln185Glu | |
| ENST00000306087.2:c.553C>G | ENSP00000305343.1:p.Gln185Glu | |
| NM_004189.3:c.553C>G | NP_004180.1:p.Gln185Glu | |
| NM_004189.4:c.553C>G MANE Select | NP_004180.1:p.Gln185Glu |