Revel Score:
ENST00000553277
0.704
ENST00000243077 (MANE Select)
0.704
ENST00000338962
0.704
ENST00000554174
0.704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57141483C>G , CM000674.2:g.57141483C>G | GRCh38 |
| NC_000012.11:g.57535266C>G , CM000674.1:g.57535266C>G | GRCh37 |
| NC_000012.10:g.55821533C>G | NCBI36 |
| NG_016444.1:g.17985C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243077.8:c.300C>G MANE Select | ENSP00000243077.3:p.Asp100Glu | |
| ENST00000243077.7:c.300C>G | ENSP00000243077.3:p.Asp100Glu | |
| ENST00000338962.8:c.300C>G | ENSP00000341264.4:p.Asp100Glu | |
| ENST00000553277.5:c.300C>G | ENSP00000451449.1:p.Asp100Glu | |
| ENST00000554174.1:c.300C>G | ENSP00000451737.1:p.Asp100Glu | |
| NM_002332.2:c.300C>G | NP_002323.2:p.Asp100Glu | |
| XM_017019303.1:c.300C>G | XP_016874792.1:p.Asp100Glu | |
| NM_002332.3:c.300C>G MANE Select | NP_002323.2:p.Asp100Glu |