Revel Score:
ENST00000549282
0.466
ENST00000549061
0.466
ENST00000267101 (MANE Select)
0.466
ENST00000394099
0.466
ENST00000411731
0.466
ENST00000549672
0.466
ENST00000415288
0.466
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56085070G>T , CM000674.2:g.56085070G>T | GRCh38 |
| NC_000012.11:g.56478854G>T , CM000674.1:g.56478854G>T | GRCh37 |
| NC_000012.10:g.54765121G>T | NCBI36 |
| NG_011529.1:g.9963G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549672.6:n.472G>T | ||
| ENST00000682431.1:n.469G>T | ||
| ENST00000683018.1:c.133G>T | ENSP00000506822.1:p.Val45Leu | |
| ENST00000683059.1:c.133G>T | ENSP00000507402.1:p.Val45Leu | |
| ENST00000683164.1:c.133G>T | ENSP00000508051.1:p.Val45Leu | |
| ENST00000683653.1:n.264G>T | ||
| ENST00000684500.1:n.439G>T | ||
| ENST00000267101.8:c.310G>T MANE Select | ENSP00000267101.4:p.Val104Leu | |
| ENST00000267101.7:c.310G>T | ENSP00000267101.3:p.Val104Leu | |
| ENST00000411731.6:c.310G>T | ENSP00000415753.2:p.Val104Leu | |
| ENST00000415288.6:c.133G>T | ENSP00000408340.2:p.Val45Leu | |
| ENST00000546884.1:n.407G>T | ||
| ENST00000549061.5:c.133G>T | ENSP00000449138.1:p.Val45Leu | |
| ENST00000549282.5:c.310G>T | ENSP00000448636.1:p.Val104Leu | |
| ENST00000549672.5:c.133G>T | ENSP00000449713.1:p.Val45Leu | |
| ENST00000550869.5:c.24+4746G>T | ENSP00000448671.1:n.24+4746G>T | |
| ENST00000551085.5:c.310G>T | ENSP00000448483.1:p.Val104Leu | |
| ENST00000551242.5:c.310G>T | ENSP00000447510.1:p.Val104Leu | |
| NM_001005915.1:c.310G>T | NP_001005915.1:p.Val104Leu | |
| NM_001982.3:c.310G>T | NP_001973.2:p.Val104Leu | |
| NM_001982.4:c.310G>T MANE Select | NP_001973.2:p.Val104Leu |