Revel Score:
ENST00000399503 (MANE Select)
0.429
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859851C>A , CM000667.2:g.56859851C>A | GRCh38 |
| NC_000005.9:g.56155678C>A , CM000667.1:g.56155678C>A | GRCh37 |
| NC_000005.8:g.56191435C>A | NCBI36 |
| NG_031884.1:g.49779C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.770C>A MANE Select | ENSP00000382423.3:p.Pro257Gln | |
| ENST00000399503.3:c.770C>A | ENSP00000382423.3:p.Pro257Gln | |
| NM_005921.1:c.770C>A | NP_005912.1:p.Pro257Gln | |
| XM_005248519.3:c.392C>A | XP_005248576.2:p.Pro131Gln | |
| XM_011543406.1:c.515C>A | XP_011541708.1:p.Pro172Gln | |
| XM_011543407.1:c.770C>A | XP_011541709.1:p.Pro257Gln | |
| XM_011543408.1:c.770C>A | XP_011541710.1:p.Pro257Gln | |
| XM_017009484.1:c.359C>A | XP_016864973.1:p.Pro120Gln | |
| XM_017009485.1:c.281C>A | XP_016864974.1:p.Pro94Gln | |
| XR_001742068.2:n.801C>A | ||
| NM_005921.2:c.770C>A MANE Select | NP_005912.1:p.Pro257Gln |