Revel Score:
ENST00000297268 (MANE Select)
0.990
ENST00000545487
0.990
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426459G>A , CM000669.2:g.94426459G>A | GRCh38 |
| NC_000007.13:g.94055771G>A , CM000669.1:g.94055771G>A | GRCh37 |
| NC_000007.12:g.93893707G>A | NCBI36 |
| NG_007405.1:g.36899G>A , LRG_2:g.36899G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3034G>A MANE Select | ENSP00000297268.6:p.Gly1012Ser | |
| ENST00000297268.10:c.3034G>A | ENSP00000297268.6:p.Gly1012Ser | |
| ENST00000478215.1:n.593G>A | ||
| ENST00000481570.5:n.3007G>A | ||
| ENST00000620463.1:c.3028G>A | ENSP00000477719.1:p.Gly1010Ser | |
| NM_000089.3:c.3034G>A , LRG_2t1:c.3034G>A | NP_000080.2:p.Gly1012Ser | |
| NM_000089.4:c.3034G>A MANE Select | NP_000080.2:p.Gly1012Ser |