Revel Score:
ENST00000261978 (MANE Select)
0.154
ENST00000556690
0.154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74611614G>C , CM000676.2:g.74611614G>C | GRCh38 |
| NC_000014.8:g.75078317G>C , CM000676.1:g.75078317G>C | GRCh37 |
| NC_000014.7:g.74148070G>C | NCBI36 |
| NG_021486.1:g.5718C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.331C>G MANE Select | ENSP00000261978.4:p.Gln111Glu | |
| ENST00000261978.8:c.331C>G | ENSP00000261978.4:p.Gln111Glu | |
| ENST00000553939.5:c.331C>G | ENSP00000452110.1:p.Gln111Glu | |
| ENST00000556690.5:c.331C>G | ENSP00000451477.1:p.Gln111Glu | |
| ENST00000557425.1:n.123+432C>G | ||
| NM_000428.2:c.331C>G | NP_000419.1:p.Gln111Glu | |
| XM_011536765.1:c.331C>G | XP_011535067.1:p.Gln111Glu | |
| XM_011536767.1:c.11+6970C>G | XP_011535069.1:n.11+6970C>G | |
| XM_011536765.2:c.331C>G | XP_011535067.1:p.Gln111Glu | |
| NM_000428.3:c.331C>G MANE Select | NP_000419.1:p.Gln111Glu |