Revel Score:
ENST00000377045 (MANE Select)
0.520
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47566721T>G , CM000685.2:g.47566721T>G | GRCh38 |
| NC_000023.10:g.47426120T>G , CM000685.1:g.47426120T>G | GRCh37 |
| NC_000023.9:g.47311064T>G | NCBI36 |
| NG_016339.1:g.10605T>G | |
| NG_016339.2:g.10605T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377045.9:c.640T>G MANE Select | ENSP00000366244.4:p.Ser214Ala | |
| ENST00000290277.10:c.649T>G | ENSP00000290277.7:p.Ser217Ala | |
| ENST00000377045.8:c.640T>G | ENSP00000366244.4:p.Ser214Ala | |
| NM_001256196.1:c.649T>G | NP_001243125.1:p.Ser217Ala | |
| NM_001654.4:c.640T>G | NP_001645.1:p.Ser214Ala | |
| XM_006724529.1:c.655T>G | XP_006724592.1:p.Ser219Ala | |
| XM_011543906.1:c.655T>G | XP_011542208.1:p.Ser219Ala | |
| XM_011543907.1:c.655T>G | XP_011542209.1:p.Ser219Ala | |
| XM_011543908.1:c.640T>G | XP_011542210.1:p.Ser214Ala | |
| XM_011543909.1:c.-18T>G | XP_011542211.1:n.-18T>G | |
| XM_006724529.3:c.655T>G | XP_006724592.1:p.Ser219Ala | |
| XM_011543906.3:c.655T>G | XP_011542208.1:p.Ser219Ala | |
| XM_011543908.3:c.640T>G | XP_011542210.1:p.Ser214Ala | |
| XM_011543909.3:c.-18T>G | XP_011542211.1:n.-18T>G | |
| NM_001654.5:c.640T>G MANE Select | NP_001645.1:p.Ser214Ala | |
| NM_001256196.2:c.649T>G | NP_001243125.1:p.Ser217Ala |