Revel Score:
ENST00000395305
0.035
ENST00000395303
0.035
ENST00000374843 (MANE Select)
0.035
ENST00000456800
0.035
ENST00000422832
0.035
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32949767C>A , CM000668.2:g.32949767C>A | GRCh38 |
| NC_000006.11:g.32917544C>A , CM000668.1:g.32917544C>A | GRCh37 |
| NC_000006.10:g.33025522C>A | NCBI36 |
| NG_012006.1:g.8356G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374843.9:c.496G>T MANE Select | ENSP00000363976.4:p.Val166Phe | |
| ENST00000374843.8:c.496G>T | ENSP00000363976.4:p.Val166Phe | |
| ENST00000395303.7:c.394G>T | ENSP00000378714.3:p.Val132Phe | |
| ENST00000395305.7:c.211G>T | ENSP00000378716.3:p.Val71Phe | |
| ENST00000422832.1:c.397G>T | ENSP00000403122.1:p.Val133Phe | |
| ENST00000429234.1:c.88+3182G>T | ENSP00000412457.1:n.88+3182G>T | |
| ENST00000456800.1:c.586G>T | ENSP00000409668.1:p.Val196Phe | |
| ENST00000464392.1:n.423G>T | ||
| ENST00000477541.1:n.1197G>T | ||
| NM_006120.3:c.496G>T | NP_006111.2:p.Val166Phe | |
| NM_006120.4:c.496G>T MANE Select | NP_006111.2:p.Val166Phe |