Revel Score:
ENST00000295550 (MANE Select)
0.975
ENST00000347401
0.975
ENST00000353578
0.975
ENST00000472056
0.975
ENST00000409809
0.975
ENST00000346358
0.975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237350155C>A , CM000664.2:g.237350155C>A | GRCh38 |
| NC_000002.11:g.238258798C>A , CM000664.1:g.238258798C>A | GRCh37 |
| NC_000002.10:g.237923537C>A | NCBI36 |
| NG_008676.1:g.69053G>T , LRG_473:g.69053G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6253G>T | ENSP00000315873.4:p.Gly2085Trp | |
| ENST00000295550.9:c.6871G>T MANE Select | ENSP00000295550.4:p.Gly2291Trp | |
| ENST00000295550.8:c.6871G>T | ENSP00000295550.4:p.Gly2291Trp | |
| ENST00000347401.7:c.5050G>T | ENSP00000315609.4:p.Gly1684Trp | |
| ENST00000353578.8:c.6253G>T | ENSP00000315873.4:p.Gly2085Trp | |
| ENST00000409809.5:c.6253G>T | ENSP00000386844.1:p.Gly2085Trp | |
| ENST00000472056.5:c.5050G>T | ENSP00000418285.1:p.Gly1684Trp | |
| ENST00000491769.1:n.1125G>T | ||
| NM_004369.3:c.6871G>T , LRG_473t1:c.6871G>T | NP_004360.2:p.Gly2291Trp | |
| NM_057166.4:c.5050G>T | NP_476507.3:p.Gly1684Trp | |
| NM_057167.3:c.6253G>T | NP_476508.2:p.Gly2085Trp | |
| XM_005246065.1:c.6271G>T | XP_005246122.1:p.Gly2091Trp | |
| XM_005246066.1:c.5650G>T | XP_005246123.1:p.Gly1884Trp | |
| XM_006712253.1:c.6370G>T | XP_006712316.1:p.Gly2124Trp | |
| XM_011510574.1:c.6868G>T | XP_011508876.1:p.Gly2290Trp | |
| XM_011510575.1:c.4465G>T | XP_011508877.1:p.Gly1489Trp | |
| XM_017003304.1:c.4465G>T | XP_016858793.1:p.Gly1489Trp | |
| XM_024452684.1:c.5650G>T | XP_024308452.1:p.Gly1884Trp | |
| NM_004369.4:c.6871G>T MANE Select | NP_004360.2:p.Gly2291Trp | |
| NM_057166.5:c.5050G>T | NP_476507.3:p.Gly1684Trp | |
| NM_057167.4:c.6253G>T | NP_476508.2:p.Gly2085Trp |