Revel Score:
ENST00000225964 (MANE Select)
0.964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195284C>T , CM000679.2:g.50195284C>T | GRCh38 |
| NC_000017.10:g.48272645C>T , CM000679.1:g.48272645C>T | GRCh37 |
| NC_000017.9:g.45627644C>T | NCBI36 |
| NG_007400.1:g.11356G>A , LRG_1:g.11356G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1247G>A MANE Select | ENSP00000225964.6:p.Gly416Asp | |
| ENST00000225964.9:c.1247G>A | ENSP00000225964.5:p.Gly416Asp | |
| ENST00000471344.1:n.191G>A | ||
| NM_000088.3:c.1247G>A , LRG_1t1:c.1247G>A | NP_000079.2:p.Gly416Asp | |
| XM_005257058.3:c.1247G>A | XP_005257115.2:p.Gly416Asp | |
| XM_005257059.3:c.957+1030G>A | XP_005257116.2:n.957+1030G>A | |
| XM_011524341.1:c.1049G>A | XP_011522643.1:p.Gly350Asp | |
| XM_005257058.4:c.1247G>A | XP_005257115.2:p.Gly416Asp | |
| XM_005257059.4:c.957+1030G>A | XP_005257116.2:n.957+1030G>A | |
| NM_000088.4:c.1247G>A MANE Select | NP_000079.2:p.Gly416Asp |