Revel Score:
ENST00000392770
0.478
ENST00000299333 (MANE Select)
0.478
ENST00000530277
0.478
ENST00000527836
0.478
ENST00000528267
0.478
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123653785C>T , CM000673.2:g.123653785C>T | GRCh38 |
| NC_000011.9:g.123524493C>T , CM000673.1:g.123524493C>T | GRCh37 |
| NC_000011.8:g.123029703C>T | NCBI36 |
| NG_016283.1:g.5823G>A , LRG_421:g.5823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299333.8:c.17G>A MANE Select | ENSP00000299333.3:p.Arg6Lys | |
| ENST00000657123.1:c.17G>A | ENSP00000499439.1:p.Arg6Lys | |
| ENST00000657191.1:c.17G>A | ENSP00000499755.1:p.Arg6Lys | |
| ENST00000667790.1:c.17G>A | ENSP00000499234.1:p.Arg6Lys | |
| ENST00000299333.7:c.17G>A | ENSP00000299333.3:p.Arg6Lys | |
| ENST00000392770.6:c.17G>A | ENSP00000376523.2:p.Arg6Lys | |
| ENST00000527836.5:c.17G>A | ENSP00000435554.1:p.Arg6Lys | |
| ENST00000528267.1:c.17G>A | ENSP00000434363.1:p.Arg6Lys | |
| ENST00000530277.5:c.17G>A | ENSP00000432785.1:p.Arg6Lys | |
| NM_001040151.1:c.17G>A | NP_001035241.1:p.Arg6Lys | |
| NM_018400.3:c.17G>A , LRG_421t1:c.17G>A | NP_060870.1:p.Arg6Lys | |
| XM_011542897.1:c.17G>A | XP_011541199.1:p.Arg6Lys | |
| XR_947858.1:n.424G>A | ||
| XM_011542897.2:c.17G>A | XP_011541199.1:p.Arg6Lys | |
| XR_948124.3:n.2058C>T | ||
| NM_001040151.2:c.17G>A MANE Select | NP_001035241.1:p.Arg6Lys | |
| NM_018400.4:c.17G>A | NP_060870.1:p.Arg6Lys |