Revel Score:
ENST00000360256 (MANE Select)
0.927
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966484T>A , CM000685.2:g.154966484T>A | GRCh38 |
| NC_000023.10:g.154194759T>A , CM000685.1:g.154194759T>A | GRCh37 |
| NC_000023.9:g.153847953T>A | NCBI36 |
| NG_011403.1:g.61240A>T | |
| NG_011403.2:g.61240A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1213A>T MANE Select | ENSP00000353393.4:p.Ile405Phe | |
| ENST00000647125.1:c.*1089A>T | ENSP00000496062.1:n.*1089A>T | |
| ENST00000360256.8:c.1213A>T | ENSP00000353393.4:p.Ile405Phe | |
| ENST00000483822.2:n.33A>T | ||
| NM_000132.3:c.1213A>T | NP_000123.1:p.Ile405Phe | |
| XM_011531126.1:c.1108A>T | XP_011529428.1:p.Ile370Phe | |
| NM_000132.4:c.1213A>T MANE Select | NP_000123.1:p.Ile405Phe |