Revel Score:
ENST00000395388 (MANE Select)
0.032
ENST00000374982
0.032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443770A>T , CM000668.2:g.32443770A>T | GRCh38 |
| NC_000006.11:g.32411547A>T , CM000668.1:g.32411547A>T | GRCh37 |
| NC_000006.10:g.32519525A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.625A>T MANE Select | ENSP00000378786.2:p.Ser209Cys | |
| ENST00000374982.5:c.550A>T | ENSP00000364121.5:p.Ser184Cys | |
| ENST00000395388.6:c.625A>T | ENSP00000378786.2:p.Ser209Cys | |
| NM_019111.4:c.625A>T | NP_061984.2:p.Ser209Cys | |
| NM_019111.5:c.625A>T MANE Select | NP_061984.2:p.Ser209Cys |