Revel Score:
ENST00000225964 (MANE Select)
0.999
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50187974C>T , CM000679.2:g.50187974C>T | GRCh38 |
| NC_000017.10:g.48265335C>T , CM000679.1:g.48265335C>T | GRCh37 |
| NC_000017.9:g.45620334C>T | NCBI36 |
| NG_007400.1:g.18666G>A , LRG_1:g.18666G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3271G>A MANE Select | ENSP00000225964.6:p.Gly1091Ser | |
| ENST00000225964.9:c.3271G>A | ENSP00000225964.5:p.Gly1091Ser | |
| ENST00000486572.1:n.469G>A | ||
| ENST00000511732.1:n.707G>A | ||
| NM_000088.3:c.3271G>A , LRG_1t1:c.3271G>A | NP_000079.2:p.Gly1091Ser | |
| XM_005257058.3:c.3001G>A | XP_005257115.2:p.Gly1001Ser | |
| XM_005257059.3:c.2353G>A | XP_005257116.2:p.Gly785Ser | |
| XM_011524341.1:c.3073G>A | XP_011522643.1:p.Gly1025Ser | |
| XM_005257058.4:c.3001G>A | XP_005257115.2:p.Gly1001Ser | |
| XM_005257059.4:c.2353G>A | XP_005257116.2:p.Gly785Ser | |
| NM_000088.4:c.3271G>A MANE Select | NP_000079.2:p.Gly1091Ser |