Revel Score:
ENST00000378079 (MANE Select)
0.020
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38945127T>A , CM000679.2:g.38945127T>A | GRCh38 |
| NC_000017.10:g.37101380T>A , CM000679.1:g.37101380T>A | GRCh37 |
| NC_000017.9:g.34354906T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378079.3:c.626A>T MANE Select | ENSP00000367319.2:p.Gln209Leu | |
| ENST00000378079.2:c.626A>T | ENSP00000367319.2:p.Gln209Leu | |
| NM_001008777.2:c.626A>T | NP_001008777.2:p.Gln209Leu | |
| XM_011524864.1:c.626A>T | XP_011523166.1:p.Gln209Leu | |
| XM_011524865.1:c.548A>T | XP_011523167.1:p.Gln183Leu | |
| XM_011524866.1:c.455A>T | XP_011523168.1:p.Gln152Leu | |
| XM_011524867.1:c.626A>T | XP_011523169.1:p.Gln209Leu | |
| XM_011524865.2:c.548A>T | XP_011523167.1:p.Gln183Leu | |
| XM_011524866.3:c.455A>T | XP_011523168.1:p.Gln152Leu | |
| XM_011524867.2:c.626A>T | XP_011523169.1:p.Gln209Leu | |
| NM_001008777.3:c.626A>T MANE Select | NP_001008777.2:p.Gln209Leu |