Revel Score:
ENST00000378802 (MANE Select)
0.872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186192004G>A , CM000666.2:g.186192004G>A | GRCh38 |
| NC_000004.11:g.187113158G>A , CM000666.1:g.187113158G>A | GRCh37 |
| NC_000004.10:g.187350152G>A | NCBI36 |
| NG_007965.1:g.5485G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.181G>A MANE Select | ENSP00000368079.4:p.Gly61Ser | |
| ENST00000378802.4:c.181G>A | ENSP00000368079.4:p.Gly61Ser | |
| NM_207352.3:c.181G>A | NP_997235.3:p.Gly61Ser | |
| XM_005262935.2:c.181G>A | XP_005262992.1:p.Gly61Ser | |
| XM_005262935.4:c.181G>A | XP_005262992.1:p.Gly61Ser | |
| XM_017008037.1:c.-130G>A | XP_016863526.1:n.-130G>A | |
| NM_207352.4:c.181G>A MANE Select | NP_997235.3:p.Gly61Ser |