Revel Score:
ENST00000316623 (MANE Select)
0.975
ENST00000389087
0.975
ENST00000544030
0.975
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48452595C>A , CM000677.2:g.48452595C>A | GRCh38 |
| NC_000015.9:g.48744792C>A , CM000677.1:g.48744792C>A | GRCh37 |
| NC_000015.8:g.46532084C>A | NCBI36 |
| NG_008805.2:g.198194G>T , LRG_778:g.198194G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5512G>T | ENSP00000453958.2:p.Gly1838Cys | |
| ENST00000674301.2:c.5512G>T | ENSP00000501333.2:p.Gly1838Cys | |
| ENST00000684448.1:n.4186G>T | ||
| ENST00000316623.10:c.5512G>T MANE Select | ENSP00000325527.5:p.Gly1838Cys | |
| ENST00000674301.1:c.511G>T | ENSP00000501333.1:p.Gly171Cys | |
| ENST00000316623.9:c.5512G>T | ENSP00000325527.5:p.Gly1838Cys | |
| ENST00000537463.6:c.*1275G>T | ENSP00000440294.2:n.*1275G>T | |
| ENST00000559133.5:c.819G>T | ||
| NM_000138.4:c.5512G>T , LRG_778t1:c.5512G>T | NP_000129.3:p.Gly1838Cys | |
| NM_000138.5:c.5512G>T MANE Select | NP_000129.3:p.Gly1838Cys |