Revel Score:
ENST00000225964 (MANE Select)
0.521
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194380C>A , CM000679.2:g.50194380C>A | GRCh38 |
| NC_000017.10:g.48271741C>A , CM000679.1:g.48271741C>A | GRCh37 |
| NC_000017.9:g.45626740C>A | NCBI36 |
| NG_007400.1:g.12260G>T , LRG_1:g.12260G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1583G>T MANE Select | ENSP00000225964.6:p.Arg528Leu | |
| ENST00000225964.9:c.1583G>T | ENSP00000225964.5:p.Arg528Leu | |
| ENST00000471344.1:n.527G>T | ||
| NM_000088.3:c.1583G>T , LRG_1t1:c.1583G>T | NP_000079.2:p.Arg528Leu | |
| XM_005257058.3:c.1583G>T | XP_005257115.2:p.Arg528Leu | |
| XM_005257059.3:c.958-1687G>T | XP_005257116.2:n.958-1687G>T | |
| XM_011524341.1:c.1385G>T | XP_011522643.1:p.Arg462Leu | |
| XM_005257058.4:c.1583G>T | XP_005257115.2:p.Arg528Leu | |
| XM_005257059.4:c.958-1687G>T | XP_005257116.2:n.958-1687G>T | |
| NM_000088.4:c.1583G>T MANE Select | NP_000079.2:p.Arg528Leu |