Revel Score:
ENST00000260947 (MANE Select)
0.095
ENST00000449967
0.095
ENST00000421162
0.095
gnomAD v2:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745818G>A , CM000664.2:g.214745818G>A | GRCh38 |
| NC_000002.11:g.215610542G>A , CM000664.1:g.215610542G>A | GRCh37 |
| NC_000002.10:g.215318787G>A | NCBI36 |
| NG_012047.2:g.68887C>T | |
| NG_012047.3:g.68894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1714C>T MANE Select | ENSP00000260947.4:p.Leu572Phe | |
| ENST00000421162.2:c.361C>T | ENSP00000392245.2:p.Leu121Phe | |
| ENST00000613192.2:c.159-15310C>T | ENSP00000483275.2:n.159-15310C>T | |
| ENST00000613374.5:c.304C>T | ENSP00000484464.1:p.Leu102Phe | |
| ENST00000613706.5:c.1306C>T | ENSP00000484976.2:p.Leu436Phe | |
| ENST00000617164.5:c.1657C>T | ENSP00000480470.1:p.Leu553Phe | |
| ENST00000619009.5:c.365-15310C>T | ENSP00000482293.1:n.365-15310C>T | |
| ENST00000650978.1:c.3089C>T | ||
| ENST00000260947.8:c.1714C>T | ENSP00000260947.4:p.Leu572Phe | |
| ENST00000421162.1:c.361C>T | ENSP00000392245.1:p.Leu121Phe | |
| ENST00000455743.5:c.*1334C>T | ENSP00000412186.1:n.*1334C>T | |
| ENST00000465841.1:n.69C>T | ||
| ENST00000613192.1:c.74-15310C>T | ENSP00000483275.1:n.74-15310C>T | |
| ENST00000613374.4:c.304C>T | ENSP00000484464.1:p.Leu102Phe | |
| ENST00000613706.4:c.361C>T | ENSP00000484976.1:p.Leu121Phe | |
| ENST00000617164.4:c.1657C>T | ENSP00000480470.1:p.Leu553Phe | |
| ENST00000619009.4:c.365-15310C>T | ENSP00000482293.1:n.365-15310C>T | |
| ENST00000620057.4:c.*380C>T | ENSP00000481988.1:n.*380C>T | |
| NM_000465.3:c.1714C>T | NP_000456.2:p.Leu572Phe | |
| NM_001282543.1:c.1657C>T | NP_001269472.1:p.Leu553Phe | |
| NM_001282545.1:c.361C>T | NP_001269474.1:p.Leu121Phe | |
| NM_001282548.1:c.304C>T | NP_001269477.1:p.Leu102Phe | |
| NM_001282549.1:c.365-15310C>T | NP_001269478.1:n.365-15310C>T | |
| NR_104212.1:n.1707C>T | ||
| NR_104215.1:n.1650C>T | ||
| NR_104216.1:n.906C>T | ||
| XM_011511567.1:c.1660C>T | XP_011509869.1:p.Leu554Phe | |
| XM_011511568.1:c.1714C>T | XP_011509870.1:p.Leu572Phe | |
| XM_017004613.1:c.1813C>T | XP_016860102.1:p.Leu605Phe | |
| XM_017004614.1:c.1813C>T | XP_016860103.1:p.Leu605Phe | |
| XR_002959322.1:n.1904C>T | ||
| NM_000465.4:c.1714C>T MANE Select | NP_000456.2:p.Leu572Phe | |
| NM_001282543.2:c.1657C>T | NP_001269472.1:p.Leu553Phe | |
| NM_001282545.2:c.361C>T | NP_001269474.1:p.Leu121Phe | |
| NM_001282548.2:c.304C>T | NP_001269477.1:p.Leu102Phe | |
| NM_001282549.2:c.365-15310C>T | NP_001269478.1:n.365-15310C>T | |
| NR_104212.2:n.1679C>T | ||
| NR_104215.2:n.1622C>T | ||
| NR_104216.2:n.878C>T |