Revel Score:
ENST00000263967 (MANE Select)
0.740
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179204579C>G , CM000665.2:g.179204579C>G | GRCh38 |
| NC_000003.11:g.178922367C>G , CM000665.1:g.178922367C>G | GRCh37 |
| NC_000003.10:g.180405061C>G | NCBI36 |
| NG_012113.2:g.61057C>G , LRG_310:g.61057C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1136C>G MANE Select | ENSP00000263967.3:p.Ser379Cys | |
| ENST00000643187.1:c.1136C>G | ENSP00000493507.1:p.Ser379Cys | |
| ENST00000674534.1:n.890C>G | ||
| ENST00000675467.1:n.3943C>G | ||
| ENST00000675786.1:c.1136C>G | ENSP00000502323.1:p.Ser379Cys | |
| ENST00000263967.3:c.1136C>G | ENSP00000263967.3:p.Ser379Cys | |
| NM_006218.2:c.1136C>G , LRG_310t1:c.1136C>G | NP_006209.2:p.Ser379Cys | |
| XM_006713658.2:c.1136C>G | XP_006713721.1:p.Ser379Cys | |
| XM_011512894.1:c.1136C>G | XP_011511196.1:p.Ser379Cys | |
| NM_006218.3:c.1136C>G | NP_006209.2:p.Ser379Cys | |
| XM_006713658.4:c.1136C>G | XP_006713721.1:p.Ser379Cys | |
| XM_011512894.2:c.1136C>G | XP_011511196.1:p.Ser379Cys | |
| NM_006218.4:c.1136C>G MANE Select | NP_006209.2:p.Ser379Cys |