Revel Score:
ENST00000261883 (MANE Select)
0.072
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65196790C>A , CM000677.2:g.65196790C>A | GRCh38 |
| NC_000015.9:g.65489128C>A , CM000677.1:g.65489128C>A | GRCh37 |
| NC_000015.8:g.63276181C>A | NCBI36 |
| NG_012214.1:g.19713G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261883.6:c.3496G>T MANE Select | ENSP00000261883.4:p.Gly1166Cys | |
| ENST00000261883.5:c.3496G>T | ENSP00000261883.4:p.Gly1166Cys | |
| NM_003613.3:c.3496G>T | NP_003604.3:p.Gly1166Cys | |
| XM_017022678.2:c.3577G>T | XP_016878167.1:p.Gly1193Cys | |
| XM_017022679.1:c.3424G>T | XP_016878168.1:p.Gly1142Cys | |
| NM_003613.4:c.3496G>T MANE Select | NP_003604.4:p.Gly1166Cys |