Revel Score:
ENST00000272238 (MANE Select)
0.514
ENST00000381661
0.514
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10778665C>T , CM000664.2:g.10778665C>T | GRCh38 |
| NC_000002.11:g.10918791C>T , CM000664.1:g.10918791C>T | GRCh37 |
| NC_000002.10:g.10836242C>T | NCBI36 |
| NG_050575.1:g.62692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272238.9:c.1057C>T MANE Select | ENSP00000272238.4:p.Leu353Phe | |
| ENST00000272238.8:c.1057C>T | ENSP00000272238.4:p.Leu353Phe | |
| ENST00000381661.3:c.919C>T | ENSP00000371077.3:p.Leu307Phe | |
| ENST00000480289.1:n.178C>T | ||
| ENST00000635370.1:c.1087C>T | ENSP00000489280.1:p.Leu363Phe | |
| NM_001039362.1:c.1057C>T | NP_001034451.1:p.Leu353Phe | |
| NM_144583.3:c.919C>T | NP_653184.2:p.Leu307Phe | |
| XM_011510339.1:c.1087C>T | XP_011508641.1:p.Leu363Phe | |
| XM_011510340.1:c.949C>T | XP_011508642.1:p.Leu317Phe | |
| XR_922657.1:n.2012C>T | ||
| XR_922658.1:n.1986C>T | ||
| XR_922659.1:n.1984C>T | ||
| XR_922660.1:n.2126C>T | ||
| XR_922662.1:n.2008C>T | ||
| XR_922663.1:n.1940C>T | ||
| XR_922664.1:n.1748C>T | ||
| XM_011510339.3:c.1087C>T | XP_011508641.1:p.Leu363Phe | |
| XM_011510340.3:c.949C>T | XP_011508642.1:p.Leu317Phe | |
| XM_017003745.2:c.1057C>T | XP_016859234.1:p.Leu353Phe | |
| XR_002959251.1:n.2053C>T | ||
| XR_922657.3:n.2012C>T | ||
| XR_922658.3:n.1987C>T | ||
| XR_922662.3:n.2008C>T | ||
| XR_922663.3:n.1940C>T | ||
| XR_922664.3:n.1737C>T | ||
| NM_001039362.2:c.1057C>T MANE Select | NP_001034451.1:p.Leu353Phe | |
| NM_144583.4:c.919C>T | NP_653184.2:p.Leu307Phe |