Revel Score:
ENST00000538789
0.030
ENST00000374298 (MANE Select)
0.030
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25835300C>T , CM000663.2:g.25835300C>T | GRCh38 |
| NC_000001.10:g.26161791C>T , CM000663.1:g.26161791C>T | GRCh37 |
| NC_000001.9:g.26034378C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374298.4:c.767G>A MANE Select | ENSP00000363416.4:p.Gly256Glu | |
| ENST00000374298.3:c.767G>A | ENSP00000363416.3:p.Gly256Glu | |
| ENST00000481602.1:n.136-969G>A | ||
| ENST00000538789.5:c.767G>A | ENSP00000443647.1:p.Gly256Glu | |
| NM_001287490.1:c.767G>A | NP_001274419.1:p.Gly256Glu | |
| NM_024037.2:c.767G>A | NP_076942.1:p.Gly256Glu | |
| NM_024037.3:c.767G>A MANE Select | NP_076942.1:p.Gly256Glu | |
| NM_001287490.2:c.767G>A | NP_001274419.1:p.Gly256Glu |