Revel Score:
ENST00000225964 (MANE Select)
0.929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50186386C>A , CM000679.2:g.50186386C>A | GRCh38 |
| NC_000017.10:g.48263747C>A , CM000679.1:g.48263747C>A | GRCh37 |
| NC_000017.9:g.45618746C>A | NCBI36 |
| NG_007400.1:g.20254G>T , LRG_1:g.20254G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3936G>T MANE Select | ENSP00000225964.6:p.Trp1312Cys | |
| ENST00000225964.9:c.3936G>T | ENSP00000225964.5:p.Trp1312Cys | |
| ENST00000510710.3:n.605G>T | ||
| NM_000088.3:c.3936G>T , LRG_1t1:c.3936G>T | NP_000079.2:p.Trp1312Cys | |
| XM_005257058.3:c.3666G>T | XP_005257115.2:p.Trp1222Cys | |
| XM_005257059.3:c.3018G>T | XP_005257116.2:p.Trp1006Cys | |
| XM_011524341.1:c.3738G>T | XP_011522643.1:p.Trp1246Cys | |
| XM_005257058.4:c.3666G>T | XP_005257115.2:p.Trp1222Cys | |
| XM_005257059.4:c.3018G>T | XP_005257116.2:p.Trp1006Cys | |
| NM_000088.4:c.3936G>T MANE Select | NP_000079.2:p.Trp1312Cys |