Revel Score:
ENST00000357068 (MANE Select)
0.251
ENST00000399694
0.251
ENST00000450579
0.251
ENST00000438924
0.045
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18922389A>T , CM000684.2:g.18922389A>T | GRCh38 |
| NC_000022.10:g.18909902A>T , CM000684.1:g.18909902A>T | GRCh37 |
| NC_000022.9:g.17289902A>T | NCBI36 |
| NG_008226.2:g.19165T>A | |
| NG_008226.3:g.19165T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.865T>A MANE Select | ENSP00000349577.6:p.Leu289Met | |
| ENST00000638240.1:c.513+11361A>T | ENSP00000492446.1:n.513+11361A>T | |
| ENST00000334029.6:c.541T>A | ENSP00000334726.2:p.Leu181Met | |
| ENST00000357068.10:c.865T>A | ENSP00000349577.6:p.Leu289Met | |
| ENST00000399694.1:n.329T>A | ||
| ENST00000420436.5:c.541T>A | ENSP00000410805.1:p.Leu181Met | |
| ENST00000429300.5:n.1202T>A | ||
| ENST00000438924.5:c.446T>A | ||
| ENST00000450579.1:c.388T>A | ENSP00000396806.1:p.Leu130Met | |
| ENST00000482858.5:n.901T>A | ||
| ENST00000491604.5:n.873T>A | ||
| ENST00000610940.4:c.865T>A | ENSP00000480347.1:p.Leu289Met | |
| NM_001195226.1:c.541T>A | NP_001182155.1:p.Leu181Met | |
| NM_016335.4:c.865T>A | NP_057419.4:p.Leu289Met | |
| XM_011530278.1:c.292T>A | XP_011528580.1:p.Leu98Met | |
| XM_011530279.1:c.85T>A | XP_011528581.1:p.Leu29Met | |
| XR_937876.1:n.898T>A | ||
| NM_001195226.2:c.541T>A | NP_001182155.2:p.Leu181Met | |
| NM_016335.5:c.865T>A | NP_057419.5:p.Leu289Met | |
| NM_016335.6:c.865T>A MANE Select | NP_057419.5:p.Leu289Met |