Revel Score:
ENST00000423485 (MANE Select)
0.060
ENST00000269577
0.060
ENST00000348049
0.060
ENST00000357601
0.060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40396314T>C , CM000679.2:g.40396314T>C | GRCh38 |
| NC_000017.10:g.38552566T>C , CM000679.1:g.38552566T>C | GRCh37 |
| NC_000017.9:g.35806092T>C | NCBI36 |
| NG_027678.1:g.26637A>G | |
| NG_027678.2:g.26637A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423485.6:c.3689A>G MANE Select | ENSP00000411532.1:p.Glu1230Gly | |
| ENST00000423485.5:c.3689A>G | ENSP00000411532.1:p.Glu1230Gly | |
| NM_001067.3:c.3689A>G | NP_001058.2:p.Glu1230Gly | |
| XM_005257632.1:c.3653A>G | XP_005257689.1:p.Glu1218Gly | |
| XM_011525165.1:c.3689A>G | XP_011523467.1:p.Glu1230Gly | |
| XM_011525165.2:c.3689A>G | XP_011523467.1:p.Glu1230Gly | |
| NM_001067.4:c.3689A>G MANE Select | NP_001058.2:p.Glu1230Gly |