Revel Score:
ENST00000493422 (MANE Select)
0.010
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52752933C>A , CM000668.2:g.52752933C>A | GRCh38 |
| NC_000006.11:g.52617731C>A , CM000668.1:g.52617731C>A | GRCh37 |
| NC_000006.10:g.52725690C>A | NCBI36 |
| NG_029430.1:g.15631G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493422.3:c.335G>T MANE Select | ENSP00000420168.1:p.Ser112Ile | |
| ENST00000493422.2:c.335G>T | ENSP00000420168.1:p.Ser112Ile | |
| NM_000846.4:c.335G>T | NP_000837.3:p.Ser112Ile | |
| XM_011514532.1:c.335G>T | XP_011512834.1:p.Ser112Ile | |
| XM_011514532.3:c.335G>T | XP_011512834.1:p.Ser112Ile | |
| NM_000846.5:c.335G>T MANE Select | NP_000837.3:p.Ser112Ile |