Revel Score:
ENST00000297268 (MANE Select)
0.973
ENST00000545487
0.973
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94414250G>C , CM000669.2:g.94414250G>C | GRCh38 |
| NC_000007.13:g.94043562G>C , CM000669.1:g.94043562G>C | GRCh37 |
| NC_000007.12:g.93881498G>C | NCBI36 |
| NG_007405.1:g.24690G>C , LRG_2:g.24690G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1694G>C MANE Select | ENSP00000297268.6:p.Gly565Ala | |
| ENST00000297268.10:c.1694G>C | ENSP00000297268.6:p.Gly565Ala | |
| ENST00000473573.5:n.31G>C | ||
| ENST00000488298.5:n.118G>C | ||
| ENST00000620463.1:c.1688G>C | ENSP00000477719.1:p.Gly563Ala | |
| NM_000089.3:c.1694G>C , LRG_2t1:c.1694G>C | NP_000080.2:p.Gly565Ala | |
| NM_000089.4:c.1694G>C MANE Select | NP_000080.2:p.Gly565Ala |