Revel Score:
ENST00000446273
0.212
ENST00000301923
0.183
ENST00000402203
0.183
ENST00000454349 (MANE Select)
0.183
ENST00000400140
0.183
ENST00000335727
0.183
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40312911C>G , CM000684.2:g.40312911C>G | GRCh38 |
| NC_000022.10:g.40708915C>G , CM000684.1:g.40708915C>G | GRCh37 |
| NC_000022.9:g.39038861C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454349.7:c.4592C>G MANE Select | ENSP00000401946.2:p.Ser1531Cys | |
| ENST00000301923.13:c.2180C>G | ENSP00000306759.9:p.Ser727Cys | |
| ENST00000335727.13:c.4262C>G | ENSP00000338371.8:p.Ser1421Cys | |
| ENST00000402203.5:c.2180C>G | ENSP00000384795.1:p.Ser727Cys | |
| ENST00000446273.1:c.3649C>G | ||
| ENST00000454349.6:c.4592C>G | ENSP00000401946.2:p.Ser1531Cys | |
| NM_001024843.1:c.2180C>G | NP_001020014.1:p.Ser727Cys | |
| NM_001162501.1:c.4592C>G | NP_001155973.1:p.Ser1531Cys | |
| NM_015088.2:c.4262C>G | NP_055903.2:p.Ser1421Cys | |
| NM_001162501.2:c.4592C>G MANE Select | NP_001155973.1:p.Ser1531Cys | |
| NM_015088.3:c.4262C>G | NP_055903.2:p.Ser1421Cys | |
| NM_001024843.2:c.2180C>G | NP_001020014.1:p.Ser727Cys |