Revel Score:
ENST00000316623 (MANE Select)
0.902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422068T>C , CM000677.2:g.48422068T>C | GRCh38 |
| NC_000015.9:g.48714265T>C , CM000677.1:g.48714265T>C | GRCh37 |
| NC_000015.8:g.46501557T>C | NCBI36 |
| NG_008805.2:g.228721A>G , LRG_778:g.228721A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*262A>G | ENSP00000453958.2:n.*262A>G | |
| ENST00000674301.2:c.*967A>G | ENSP00000501333.2:n.*967A>G | |
| ENST00000682170.1:n.1635A>G | ||
| ENST00000682767.1:n.751A>G | ||
| ENST00000316623.10:c.7454A>G MANE Select | ENSP00000325527.5:p.Asp2485Gly | |
| ENST00000674301.1:c.2620A>G | ENSP00000501333.1:n.2620A>G | |
| ENST00000316623.9:c.7454A>G | ENSP00000325527.5:p.Asp2485Gly | |
| ENST00000559133.5:c.2823A>G | ||
| NM_000138.4:c.7454A>G , LRG_778t1:c.7454A>G | NP_000129.3:p.Asp2485Gly | |
| NM_000138.5:c.7454A>G MANE Select | NP_000129.3:p.Asp2485Gly |