Revel Score:
ENST00000553106 (MANE Select)
0.983
ENST00000307000
0.983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844409A>C , CM000674.2:g.102844409A>C | GRCh38 |
| NC_000012.11:g.103238187A>C , CM000674.1:g.103238187A>C | GRCh37 |
| NC_000012.10:g.101762317A>C | NCBI36 |
| NG_008690.1:g.78194T>G | |
| NG_008690.2:g.119002T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.992T>G MANE Select | ENSP00000448059.1:p.Phe331Cys | |
| ENST00000307000.7:c.977T>G | ENSP00000303500.2:p.Phe326Cys | |
| ENST00000549247.6:n.751T>G | ||
| ENST00000551114.2:n.654T>G | ||
| ENST00000553106.5:c.992T>G | ENSP00000448059.1:p.Phe331Cys | |
| ENST00000635477.1:c.96T>G | ||
| ENST00000635528.1:n.507T>G | ||
| NM_000277.1:c.992T>G | NP_000268.1:p.Phe331Cys | |
| XM_011538422.1:c.935T>G | XP_011536724.1:p.Phe312Cys | |
| NM_000277.2:c.992T>G | NP_000268.1:p.Phe331Cys | |
| NM_001354304.1:c.992T>G | NP_001341233.1:p.Phe331Cys | |
| NM_000277.3:c.992T>G MANE Select | NP_000268.1:p.Phe331Cys | |
| NM_001354304.2:c.992T>G | NP_001341233.1:p.Phe331Cys |