Revel Score:
ENST00000272298 (MANE Select)
0.577
ENST00000456319
0.577
ENST00000409563
0.577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47161816T>A , CM000664.2:g.47161816T>A | GRCh38 |
| NC_000002.11:g.47388955T>A , CM000664.1:g.47388955T>A | GRCh37 |
| NC_000002.10:g.47242459T>A | NCBI36 |
| NG_042065.1:g.20121A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272298.12:c.328A>T MANE Select | ENSP00000272298.7:p.Met110Leu | |
| ENST00000456319.6:c.220A>T | ENSP00000411440.2:p.Met74Leu | |
| ENST00000652974.1:c.*312A>T | ENSP00000499369.1:n.*312A>T | |
| ENST00000655450.1:c.220A>T | ENSP00000499266.1:p.Met74Leu | |
| ENST00000655728.1:c.220A>T | ENSP00000499656.1:p.Met74Leu | |
| ENST00000656538.1:c.220A>T | ENSP00000499357.1:p.Met74Leu | |
| ENST00000668667.1:c.220A>T | ENSP00000499706.1:p.Met74Leu | |
| ENST00000670593.1:n.1233A>T | ||
| ENST00000272298.11:c.328A>T | ENSP00000272298.7:p.Met110Leu | |
| ENST00000409563.5:c.469A>T | ENSP00000387065.1:p.Met157Leu | |
| ENST00000422269.1:c.103-8800A>T | ||
| ENST00000432899.5:c.*23A>T | ENSP00000406112.1:n.*23A>T | |
| ENST00000456319.5:c.442A>T | ENSP00000411440.1:p.Met148Leu | |
| ENST00000460218.5:n.3768A>T | ||
| ENST00000482532.5:n.1595A>T | ||
| ENST00000484408.5:n.589A>T | ||
| ENST00000628793.2:c.166-36A>T | ENSP00000486952.1:n.166-36A>T | |
| NM_001305624.1:c.472A>T | NP_001292553.1:p.Met158Leu | |
| NM_001305625.1:c.220A>T | NP_001292554.1:p.Met74Leu | |
| NM_001305626.1:c.220A>T | NP_001292555.1:p.Met74Leu | |
| NM_001743.4:c.328A>T | NP_001734.1:p.Met110Leu | |
| NM_001743.5:c.328A>T | NP_001734.1:p.Met110Leu | |
| NM_001743.6:c.328A>T MANE Select | NP_001734.1:p.Met110Leu | |
| NM_001305625.2:c.220A>T | NP_001292554.1:p.Met74Leu |