Revel Score:
ENST00000296695 (MANE Select)
0.556
ENST00000510027
0.556
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147828066A>C , CM000667.2:g.147828066A>C | GRCh38 |
| NC_000005.9:g.147207629A>C , CM000667.1:g.147207629A>C | GRCh37 |
| NC_000005.8:g.147187822A>C | NCBI36 |
| NG_008356.2:g.16166T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.150T>G MANE Select | ENSP00000296695.5:p.Asp50Glu | |
| ENST00000296695.9:c.150T>G | ENSP00000296695.5:p.Asp50Glu | |
| ENST00000505722.1:n.65T>G | ||
| ENST00000510027.2:c.150T>G | ENSP00000427376.1:p.Asp50Glu | |
| NM_003122.4:c.150T>G | NP_003113.2:p.Asp50Glu | |
| NM_001354966.1:c.150T>G | NP_001341895.1:p.Asp50Glu | |
| NM_001354966.2:c.150T>G | NP_001341895.1:p.Asp50Glu | |
| NM_001379610.1:c.150T>G MANE Select | NP_001366539.1:p.Asp50Glu | |
| NM_003122.5:c.150T>G | NP_003113.2:p.Asp50Glu |