Revel Score:
ENST00000367429 (MANE Select)
0.261
gnomAD v3:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747189C>T , CM000663.2:g.196747189C>T | GRCh38 |
| NC_000001.10:g.196716319C>T , CM000663.1:g.196716319C>T | GRCh37 |
| NC_000001.9:g.194982942C>T | NCBI36 |
| NG_007259.1:g.100179C>T , LRG_47:g.100179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4600C>T | ||
| ENST00000695970.1:c.3398C>T | ENSP00000512297.1:p.Ser1133Leu | |
| ENST00000695971.1:c.3551C>T | ENSP00000512298.1:p.Ser1184Leu | |
| ENST00000695972.1:c.*649C>T | ENSP00000512299.1:n.*649C>T | |
| ENST00000695973.1:c.*1936C>T | ENSP00000512300.1:n.*1936C>T | |
| ENST00000695974.1:c.3395C>T | ENSP00000512301.1:p.Ser1132Leu | |
| ENST00000695975.1:c.*1699C>T | ENSP00000512302.1:n.*1699C>T | |
| ENST00000695976.1:c.3383C>T | ENSP00000512303.1:p.Ser1128Leu | |
| ENST00000695981.1:c.3572C>T | ENSP00000512306.1:p.Ser1191Leu | |
| ENST00000695984.1:c.1580C>T | ENSP00000512309.1:p.Ser527Leu | |
| ENST00000695986.1:c.*3223C>T | ENSP00000512311.1:n.*3223C>T | |
| ENST00000695990.1:n.606C>T | ||
| ENST00000696026.1:c.*1854C>T | ENSP00000512335.1:n.*1854C>T | |
| ENST00000696027.1:c.3566C>T | ENSP00000512336.1:p.Ser1189Leu | |
| ENST00000696028.1:c.3500C>T | ENSP00000512337.1:p.Ser1167Leu | |
| ENST00000696029.1:c.3566C>T | ENSP00000512338.1:p.Ser1189Leu | |
| ENST00000696031.1:c.*3090C>T | ENSP00000512340.1:n.*3090C>T | |
| ENST00000696032.1:c.3572C>T | ENSP00000512341.1:p.Ser1191Leu | |
| ENST00000696033.1:c.1160-32608C>T | ENSP00000512342.1:n.1160-32608C>T | |
| ENST00000367429.9:c.3572C>T MANE Select | ENSP00000356399.4:p.Ser1191Leu | |
| ENST00000367429.8:c.3572C>T | ENSP00000356399.4:p.Ser1191Leu | |
| ENST00000466229.5:n.6670C>T | ||
| NM_000186.3:c.3572C>T , LRG_47t1:c.3572C>T | NP_000177.2:p.Ser1191Leu | |
| XR_001737134.2:n.3758C>T | ||
| NM_000186.4:c.3572C>T MANE Select | NP_000177.2:p.Ser1191Leu |