Revel Score:
ENST00000219368 (MANE Select)
0.463
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774617C>G , CM000678.2:g.74774617C>G | GRCh38 |
| NC_000016.9:g.74808515C>G , CM000678.1:g.74808515C>G | GRCh37 |
| NC_000016.8:g.73366016C>G | NCBI36 |
| NG_017070.1:g.5215G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.139G>C MANE Select | ENSP00000219368.3:p.Glu47Gln | |
| ENST00000219368.7:c.139G>C | ENSP00000219368.3:p.Glu47Gln | |
| ENST00000567683.5:c.139G>C | ENSP00000455126.1:p.Glu47Gln | |
| NM_024306.4:c.139G>C | NP_077282.3:p.Glu47Gln | |
| XM_011523317.1:c.139G>C | XP_011521619.1:p.Glu47Gln | |
| XM_011523318.1:c.139G>C | XP_011521620.1:p.Glu47Gln | |
| XM_011523317.3:c.139G>C | XP_011521619.1:p.Glu47Gln | |
| NM_024306.5:c.139G>C MANE Select | NP_077282.3:p.Glu47Gln |