Revel Score:
ENST00000344876 (MANE Select)
0.392
ENST00000412923
0.392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.137531710C>T , CM000666.2:g.137531710C>T | GRCh38 |
| NC_000004.11:g.138452864C>T , CM000666.1:g.138452864C>T | GRCh37 |
| NC_000004.10:g.138672314C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344876.9:c.379G>A MANE Select | ENSP00000355082.4:p.Val127Met | |
| ENST00000344876.8:c.379G>A | ENSP00000355082.4:p.Val127Met | |
| ENST00000412923.6:c.379G>A | ENSP00000390688.2:p.Val127Met | |
| ENST00000507846.5:c.-282G>A | ENSP00000425903.1:n.-282G>A | |
| ENST00000510305.5:c.-12+545G>A | ENSP00000424269.1:n.-12+545G>A | |
| ENST00000511115.5:c.30+545G>A | ENSP00000425647.1:n.30+545G>A | |
| ENST00000611581.1:c.30+545G>A | ENSP00000478176.1:n.30+545G>A | |
| NM_001300828.1:c.379G>A | NP_001287757.1:p.Val127Met | |
| NM_019035.4:c.379G>A | NP_061908.1:p.Val127Met | |
| XM_006714239.2:c.379G>A | XP_006714302.1:p.Val127Met | |
| XM_006714239.3:c.379G>A | XP_006714302.1:p.Val127Met | |
| XM_017008311.1:c.379G>A | XP_016863800.1:p.Val127Met | |
| NM_001300828.2:c.379G>A | NP_001287757.1:p.Val127Met | |
| NM_019035.5:c.379G>A MANE Select | NP_061908.1:p.Val127Met |