Revel Score:
ENST00000378802 (MANE Select)
0.222
ENST00000274118
0.222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194518T>A , CM000666.2:g.186194518T>A | GRCh38 |
| NC_000004.11:g.187115672T>A , CM000666.1:g.187115672T>A | GRCh37 |
| NC_000004.10:g.187352666T>A | NCBI36 |
| NG_007965.1:g.7999T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.233T>A MANE Select | ENSP00000368079.4:p.Ile78Asn | |
| ENST00000378802.4:c.233T>A | ENSP00000368079.4:p.Ile78Asn | |
| NM_207352.3:c.233T>A | NP_997235.3:p.Ile78Asn | |
| XM_005262935.2:c.233T>A | XP_005262992.1:p.Ile78Asn | |
| XM_005262935.4:c.233T>A | XP_005262992.1:p.Ile78Asn | |
| XM_017008037.1:c.-78T>A | XP_016863526.1:n.-78T>A | |
| NM_207352.4:c.233T>A MANE Select | NP_997235.3:p.Ile78Asn |