Revel Score:
ENST00000556922
0.834
ENST00000555399
0.834
ENST00000304984
0.834
ENST00000555810
0.834
ENST00000554444
0.834
ENST00000315491 (MANE Select)
0.834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89935065A>C , CM000678.2:g.89935065A>C | GRCh38 |
| NC_000016.9:g.90001473A>C , CM000678.1:g.90001473A>C | GRCh37 |
| NC_000016.8:g.88528974A>C | NCBI36 |
| NG_027810.1:g.18057A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.614A>C MANE Select | ENSP00000320295.7:p.Glu205Ala | |
| ENST00000680788.1:n.4035A>C | ||
| ENST00000315491.11:c.614A>C | ENSP00000320295.7:p.Glu205Ala | |
| ENST00000554444.5:c.398A>C | ENSP00000451617.1:p.Glu133Ala | |
| ENST00000555576.5:c.277+1487A>C | ENSP00000452554.1:n.277+1487A>C | |
| ENST00000555609.5:c.*699A>C | ENSP00000451276.1:n.*699A>C | |
| ENST00000555810.5:c.398A>C | ENSP00000450538.1:p.Glu133Ala | |
| ENST00000556536.5:c.*413A>C | ENSP00000451378.1:n.*413A>C | |
| ENST00000556922.1:c.1655A>C | ENSP00000451560.1:p.Glu552Ala | |
| NM_001197181.1:c.398A>C | NP_001184110.1:p.Glu133Ala | |
| NM_006086.3:c.614A>C | NP_006077.2:p.Glu205Ala | |
| NM_006086.4:c.614A>C MANE Select | NP_006077.2:p.Glu205Ala | |
| NM_001197181.2:c.398A>C | NP_001184110.1:p.Glu133Ala |