COSMIC:
dbSNP:
Revel Score:
ENST00000395179
0.863
ENST00000443591
0.863
ENST00000308731 (MANE Select)
0.863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101356176C>A , CM000685.2:g.101356176C>A | GRCh38 |
| NC_000023.10:g.100611164C>A , CM000685.1:g.100611164C>A | GRCh37 |
| NC_000023.9:g.100497820C>A | NCBI36 |
| NG_009616.1:g.35049G>T , LRG_128:g.35049G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.1602G>T | ||
| ENST00000488970.2:n.1600G>T | ||
| ENST00000695614.1:c.1442G>T | ENSP00000512053.1:p.Cys481Phe | |
| ENST00000695615.1:c.1442G>T | ENSP00000512054.1:p.Cys481Phe | |
| ENST00000695616.1:c.*1287G>T | ENSP00000512055.1:n.*1287G>T | |
| ENST00000695617.1:c.1439G>T | ENSP00000512056.1:p.Cys480Phe | |
| ENST00000695618.1:c.*1191G>T | ENSP00000512058.1:n.*1191G>T | |
| ENST00000695619.1:c.*1152G>T | ENSP00000512059.1:n.*1152G>T | |
| ENST00000695620.1:c.*1368G>T | ENSP00000512060.1:n.*1368G>T | |
| ENST00000695621.1:c.1442G>T | ENSP00000512061.1:p.Cys481Phe | |
| ENST00000695622.1:c.1379G>T | ENSP00000512062.1:p.Cys460Phe | |
| ENST00000695623.1:c.1436G>T | ENSP00000512063.1:p.Cys479Phe | |
| ENST00000695624.1:n.747G>T | ||
| ENST00000695625.1:c.1442G>T | ENSP00000512064.1:p.Cys481Phe | |
| ENST00000695626.1:c.321+608G>T | ENSP00000512065.1:n.321+608G>T | |
| ENST00000695627.1:c.455G>T | ENSP00000512066.1:p.Cys152Phe | |
| ENST00000695628.1:c.190+1333G>T | ENSP00000512067.1:n.190+1333G>T | |
| ENST00000695629.1:c.190+1333G>T | ENSP00000512068.1:n.190+1333G>T | |
| ENST00000695630.1:c.358+608G>T | ||
| ENST00000695631.1:c.114+2134G>T | ||
| ENST00000695632.1:n.366+608G>T | ||
| ENST00000703407.1:c.1039-1482G>T | ENSP00000512057.1:n.1039-1482G>T | |
| ENST00000308731.8:c.1442G>T MANE Select | ENSP00000308176.8:p.Cys481Phe | |
| ENST00000308731.7:c.1442G>T | ENSP00000308176.7:p.Cys481Phe | |
| ENST00000372880.5:c.1039-1482G>T | ENSP00000361971.1:n.1039-1482G>T | |
| ENST00000478995.1:n.114G>T | ||
| ENST00000618050.4:c.1442G>T | ENSP00000479125.1:p.Cys481Phe | |
| ENST00000621635.4:c.1544G>T | ENSP00000483570.1:p.Cys515Phe | |
| NM_000061.2:c.1442G>T , LRG_128t1:c.1442G>T | NP_000052.1:p.Cys481Phe | |
| NM_001287344.1:c.1544G>T | NP_001274273.1:p.Cys515Phe | |
| NM_001287345.1:c.1039-1482G>T | NP_001274274.1:n.1039-1482G>T | |
| NM_000061.3:c.1442G>T MANE Select | NP_000052.1:p.Cys481Phe | |
| NM_001287344.2:c.1544G>T | NP_001274273.1:p.Cys515Phe | |
| NM_001287345.2:c.1039-1482G>T | NP_001274274.1:n.1039-1482G>T |