Revel Score:
ENST00000233242 (MANE Select)
0.031
ENST00000535079
0.031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21012604A>T , CM000664.2:g.21012604A>T | GRCh38 |
| NC_000002.11:g.21235476A>T , CM000664.1:g.21235476A>T | GRCh37 |
| NC_000002.10:g.21088981A>T | NCBI36 |
| NG_011793.1:g.36470T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*3570T>A | ENSP00000501110.2:n.*3570T>A | |
| ENST00000673739.1:c.3978T>A | ENSP00000501110.1:n.3978T>A | |
| ENST00000233242.5:c.4264T>A MANE Select | ENSP00000233242.1:p.Cys1422Ser | |
| ENST00000616098.4:c.4264T>A | ENSP00000477990.1:p.Cys1422Ser | |
| NM_000384.2:c.4264T>A | NP_000375.2:p.Cys1422Ser | |
| XM_011532809.1:c.4264T>A | XP_011531111.1:p.Cys1422Ser | |
| NM_000384.3:c.4264T>A MANE Select | NP_000375.3:p.Cys1422Ser |