Revel Score:
ENST00000312397 (MANE Select)
0.052
ENST00000542816
0.052
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65967703G>A , CM000673.2:g.65967703G>A | GRCh38 |
| NC_000011.9:g.65735174G>A , CM000673.1:g.65735174G>A | GRCh37 |
| NC_000011.8:g.65491750G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312397.10:c.1454G>A MANE Select | ENSP00000310448.5:p.Gly485Glu | |
| ENST00000312397.9:c.1454G>A | ENSP00000310448.5:p.Gly485Glu | |
| NM_005146.4:c.1454G>A | NP_005137.1:p.Gly485Glu | |
| XM_011545344.1:c.1160G>A | XP_011543646.1:p.Gly387Glu | |
| XM_011545345.1:c.980G>A | XP_011543647.1:p.Gly327Glu | |
| XR_950099.1:n.1518G>A | ||
| XM_011545345.2:c.980G>A | XP_011543647.1:p.Gly327Glu | |
| XR_950099.3:n.1508G>A | ||
| NM_005146.5:c.1454G>A MANE Select | NP_005137.1:p.Gly485Glu |