Revel Score:
ENST00000335295 (MANE Select)
0.561
ENST00000380315
0.561
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226630T>A , CM000673.2:g.5226630T>A | GRCh38 |
| NC_000011.9:g.5247860T>A , CM000673.1:g.5247860T>A | GRCh37 |
| NC_000011.8:g.5204436T>A | NCBI36 |
| NG_000007.3:g.70986A>T | |
| NG_059281.1:g.5442A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.262A>T | ENSP00000494175.1:p.Thr88Ser | |
| ENST00000335295.4:c.262A>T MANE Select | ENSP00000333994.3:p.Thr88Ser | |
| ENST00000380315.2:c.262A>T | ENSP00000369671.2:p.Thr88Ser | |
| ENST00000475226.1:n.194A>T | ||
| ENST00000485743.1:n.313A>T | ||
| ENST00000633227.1:c.*78A>T | ENSP00000488004.1:n.*78A>T | |
| NM_000518.4:c.262A>T | NP_000509.1:p.Thr88Ser | |
| NM_000518.5:c.262A>T MANE Select | NP_000509.1:p.Thr88Ser |