Revel Score:
ENST00000299855 (MANE Select)
0.005
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842889T>G , CM000673.2:g.102842889T>G | GRCh38 |
| NC_000011.9:g.102713620T>G , CM000673.1:g.102713620T>G | GRCh37 |
| NC_000011.8:g.102218830T>G | NCBI36 |
| NG_012100.1:g.5723A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.133A>C MANE Select | ENSP00000299855.5:p.Lys45Gln | |
| ENST00000299855.9:c.133A>C | ENSP00000299855.5:p.Lys45Gln | |
| ENST00000524478.1:c.104A>C | ENSP00000435255.1:p.Gln35Pro | |
| NM_002422.3:c.133A>C | NP_002413.1:p.Lys45Gln | |
| NM_002422.4:c.133A>C | NP_002413.1:p.Lys45Gln | |
| NM_002422.5:c.133A>C MANE Select | NP_002413.1:p.Lys45Gln |