Revel Score:
ENST00000506491
0.801
ENST00000508657
0.801
ENST00000309755 (MANE Select)
0.801
ENST00000505853
0.801
ENST00000394937
0.801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137698396T>G , CM000667.2:g.137698396T>G | GRCh38 |
| NC_000005.9:g.137034085T>G , CM000667.1:g.137034085T>G | GRCh37 |
| NC_000005.8:g.137061984T>G | NCBI36 |
| NG_032569.1:g.42695A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.254A>C MANE Select | ENSP00000312397.4:p.Glu85Ala | |
| ENST00000309755.8:c.254A>C | ENSP00000312397.4:p.Glu85Ala | |
| ENST00000504208.5:c.8A>C | ENSP00000423585.1:p.Glu3Ala | |
| ENST00000505853.1:c.134A>C | ENSP00000426173.1:p.Glu45Ala | |
| ENST00000506491.5:c.8A>C | ENSP00000424828.1:p.Glu3Ala | |
| ENST00000508657.5:c.158A>C | ENSP00000422099.1:p.Glu53Ala | |
| ENST00000515334.5:n.161A>C | ||
| NM_001257194.1:c.158A>C | NP_001244123.1:p.Glu53Ala | |
| NM_001257195.1:c.8A>C | NP_001244124.1:p.Glu3Ala | |
| NM_017415.2:c.254A>C | NP_059111.2:p.Glu85Ala | |
| NM_017415.3:c.254A>C MANE Select | NP_059111.2:p.Glu85Ala | |
| NM_001257195.2:c.8A>C | NP_001244124.1:p.Glu3Ala |