Revel Score:
ENST00000423816
0.534
ENST00000392414
0.534
ENST00000342741 (MANE Select)
0.534
ENST00000271946
0.534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155291760T>G , CM000663.2:g.155291760T>G | GRCh38 |
| NC_000001.10:g.155261551T>G , CM000663.1:g.155261551T>G | GRCh37 |
| NC_000001.9:g.153528175T>G | NCBI36 |
| NG_011677.1:g.14675A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.1614A>C MANE Select | ENSP00000339933.4:p.Glu538Asp | |
| ENST00000342741.4:c.1614A>C | ENSP00000339933.4:p.Glu538Asp | |
| ENST00000392414.7:c.1521A>C | ENSP00000376214.3:p.Glu507Asp | |
| NM_000298.5:c.1614A>C | NP_000289.1:p.Glu538Asp | |
| NM_181871.3:c.1521A>C | NP_870986.1:p.Glu507Asp | |
| XM_005245266.3:c.1773A>C | XP_005245323.1:p.Glu591Asp | |
| XM_006711386.2:c.1422A>C | XP_006711449.1:p.Glu474Asp | |
| XM_011509640.1:c.1422A>C | XP_011507942.1:p.Glu474Asp | |
| NM_000298.6:c.1614A>C MANE Select | NP_000289.1:p.Glu538Asp | |
| XM_006711386.4:c.1422A>C | XP_006711449.1:p.Glu474Asp | |
| XM_011509640.3:c.1422A>C | XP_011507942.1:p.Glu474Asp | |
| NM_181871.4:c.1521A>C | NP_870986.1:p.Glu507Asp |