Revel Score:
ENST00000353065
0.826
ENST00000295619 (MANE Select)
0.826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71784959C>T , CM000665.2:g.71784959C>T | GRCh38 |
| NC_000003.11:g.71834110C>T , CM000665.1:g.71834110C>T | GRCh37 |
| NC_000003.10:g.71916800C>T | NCBI36 |
| NG_008275.1:g.5248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295619.4:c.94G>A MANE Select | ENSP00000295619.3:p.Gly32Arg | |
| ENST00000295619.3:c.94G>A | ENSP00000295619.3:p.Gly32Arg | |
| ENST00000353065.7:c.94G>A | ENSP00000295618.3:p.Gly32Arg | |
| NM_001126128.1:c.94G>A | NP_001119600.1:p.Gly32Arg | |
| NM_021935.3:c.94G>A | NP_068754.1:p.Gly32Arg | |
| NM_001126128.2:c.94G>A MANE Select | NP_001119600.1:p.Gly32Arg | |
| NM_021935.4:c.94G>A | NP_068754.1:p.Gly32Arg |