Revel Score:
ENST00000297268 (MANE Select)
0.981
ENST00000545487
0.981
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94410278G>A , CM000669.2:g.94410278G>A | GRCh38 |
| NC_000007.13:g.94039590G>A , CM000669.1:g.94039590G>A | GRCh37 |
| NC_000007.12:g.93877526G>A | NCBI36 |
| NG_007405.1:g.20718G>A , LRG_2:g.20718G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1072G>A MANE Select | ENSP00000297268.6:p.Gly358Ser | |
| ENST00000297268.10:c.1072G>A | ENSP00000297268.6:p.Gly358Ser | |
| ENST00000620463.1:c.1066G>A | ENSP00000477719.1:p.Gly356Ser | |
| NM_000089.3:c.1072G>A , LRG_2t1:c.1072G>A | NP_000080.2:p.Gly358Ser | |
| NM_000089.4:c.1072G>A MANE Select | NP_000080.2:p.Gly358Ser |