Revel Score:
ENST00000409731
0.963
ENST00000345517 (MANE Select)
0.963
ENST00000409918
0.963
ENST00000442912
0.963
ENST00000409624
0.963
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73901429C>T , CM000664.2:g.73901429C>T | GRCh38 |
| NC_000002.11:g.74128556C>T , CM000664.1:g.74128556C>T | GRCh37 |
| NC_000002.10:g.73982064C>T | NCBI36 |
| NG_034140.1:g.13464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345517.8:c.118C>T MANE Select | ENSP00000295137.3:p.Arg40Cys | |
| ENST00000345517.7:c.118C>T | ENSP00000295137.3:p.Arg40Cys | |
| ENST00000409624.1:c.118C>T | ENSP00000386857.1:p.Arg40Cys | |
| ENST00000409731.7:c.118C>T | ENSP00000386929.3:p.Arg40Cys | |
| ENST00000409918.5:c.118C>T | ENSP00000387182.1:p.Arg40Cys | |
| ENST00000429756.5:c.118C>T | ENSP00000392894.1:p.Arg40Cys | |
| ENST00000438902.6:c.118C>T | ENSP00000410706.2:p.Arg40Cys | |
| ENST00000442912.5:c.118C>T | ENSP00000410020.1:p.Arg40Cys | |
| ENST00000468543.5:n.198C>T | ||
| ENST00000473016.1:n.255C>T | ||
| NM_001199893.1:c.118C>T | NP_001186822.1:p.Arg40Cys | |
| NM_001615.3:c.118C>T | NP_001606.1:p.Arg40Cys | |
| NM_001199893.2:c.118C>T | NP_001186822.1:p.Arg40Cys | |
| NM_001615.4:c.118C>T MANE Select | NP_001606.1:p.Arg40Cys |