Revel Score:
ENST00000368742 (MANE Select)
0.225
ENST00000392652
0.225
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153261034A>T , CM000663.2:g.153261034A>T | GRCh38 |
| NC_000001.10:g.153233510A>T , CM000663.1:g.153233510A>T | GRCh37 |
| NC_000001.9:g.151500134A>T | NCBI36 |
| NG_011818.1:g.6332A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368742.4:c.85A>T MANE Select | ENSP00000357731.3:p.Ser29Cys | |
| ENST00000368742.3:c.85A>T | ENSP00000357731.3:p.Ser29Cys | |
| NM_000427.2:c.85A>T | NP_000418.2:p.Ser29Cys | |
| XM_011509541.1:c.85A>T | XP_011507843.1:p.Ser29Cys | |
| XM_024447049.1:c.85A>T | XP_024302817.1:p.Ser29Cys | |
| NM_000427.3:c.85A>T MANE Select | NP_000418.2:p.Ser29Cys |