Revel Score:
ENST00000260408 (MANE Select)
0.225
ENST00000439637
0.225
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58665172C>A , CM000677.2:g.58665172C>A | GRCh38 |
| NC_000015.9:g.58957371C>A , CM000677.1:g.58957371C>A | GRCh37 |
| NC_000015.8:g.56744663C>A | NCBI36 |
| NG_033876.1:g.89807G>T | |
| NG_033876.2:g.89536G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260408.8:c.510G>T MANE Select | ENSP00000260408.3:p.Gln170His | |
| ENST00000260408.7:c.510G>T | ENSP00000260408.3:p.Gln170His | |
| ENST00000396136.6:c.336G>T | ||
| ENST00000402627.5:c.56-24342G>T | ENSP00000386056.1:n.56-24342G>T | |
| ENST00000439637.5:c.351G>T | ENSP00000391930.1:p.Gln117His | |
| ENST00000497846.5:n.627G>T | ||
| ENST00000558733.5:n.746G>T | ||
| ENST00000559053.1:c.56-24342G>T | ENSP00000453952.1:n.56-24342G>T | |
| ENST00000561288.1:c.56-67654G>T | ENSP00000452639.1:n.56-67654G>T | |
| NM_001110.3:c.510G>T | NP_001101.1:p.Gln170His | |
| XM_005254117.2:c.510G>T | XP_005254174.1:p.Gln170His | |
| NM_001320570.1:c.510G>T | NP_001307499.1:p.Gln170His | |
| XM_024449818.1:c.288G>T | XP_024305586.1:p.Gln96His | |
| NM_001110.4:c.510G>T MANE Select | NP_001101.1:p.Gln170His | |
| NM_001320570.2:c.510G>T | NP_001307499.1:p.Gln170His |