Revel Score:
ENST00000322893 (MANE Select)
0.056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62708380T>G , CM000676.2:g.62708380T>G | GRCh38 |
| NC_000014.8:g.63175098T>G , CM000676.1:g.63175098T>G | GRCh37 |
| NC_000014.7:g.62244851T>G | NCBI36 |
| NG_034062.1:g.341859A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322893.12:c.2095A>C MANE Select | ENSP00000321427.7:p.Ser699Arg | |
| ENST00000322893.11:c.2095A>C | ENSP00000321427.7:p.Ser699Arg | |
| ENST00000420622.6:c.1898A>C | ENSP00000395439.2:n.1898A>C | |
| NM_139318.4:c.2095A>C | NP_647479.2:p.Ser699Arg | |
| NM_172375.2:c.*62A>C | NP_758963.1:n.*62A>C | |
| NM_139318.5:c.2095A>C MANE Select | NP_647479.2:p.Ser699Arg | |
| NM_172375.3:c.*62A>C | NP_758963.1:n.*62A>C |