Revel Score:
ENST00000333590 (MANE Select)
0.851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15331315T>A , CM000685.2:g.15331315T>A | GRCh38 |
| NC_000023.10:g.15349437T>A , CM000685.1:g.15349437T>A | GRCh37 |
| NC_000023.9:g.15259358T>A | NCBI36 |
| NG_009786.1:g.9224A>T , LRG_160:g.9224A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.616A>T MANE Select | ENSP00000369820.3:p.Ile206Phe | |
| ENST00000637296.1:c.-314-16A>T | ENSP00000490545.1:n.-314-16A>T | |
| ENST00000637626.1:c.616A>T | ENSP00000489928.1:p.Ile206Phe | |
| ENST00000638131.1:c.111+505A>T | ENSP00000490483.1:n.111+505A>T | |
| ENST00000333590.5:c.616A>T | ENSP00000369820.3:p.Ile206Phe | |
| ENST00000474662.2:n.142+559A>T | ||
| ENST00000482148.6:c.341+275A>T | ENSP00000489528.1:n.341+275A>T | |
| ENST00000542278.6:c.616A>T | ENSP00000442653.2:p.Ile206Phe | |
| ENST00000634286.1:c.134+275A>T | ENSP00000489491.1:n.134+275A>T | |
| ENST00000634582.1:c.13+4186A>T | ENSP00000489540.1:n.13+4186A>T | |
| ENST00000634640.1:c.-231+559A>T | ENSP00000489083.1:n.-231+559A>T | |
| ENST00000635045.1:n.701A>T | ||
| ENST00000635598.1:c.341+275A>T | ENSP00000489207.1:n.341+275A>T | |
| NM_002641.3:c.616A>T , LRG_160t1:c.616A>T | NP_002632.1:p.Ile206Phe | |
| NM_020473.3:c.13+4186A>T | NP_065206.3:n.13+4186A>T | |
| NR_033835.1:n.457+275A>T | ||
| NR_033836.1:n.173+559A>T | ||
| NM_002641.4:c.616A>T MANE Select | NP_002632.1:p.Ile206Phe |