Revel Score:
ENST00000512123 (MANE Select)
0.062
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78466213G>A , CM000666.2:g.78466213G>A | GRCh38 |
| NC_000004.11:g.79387367G>A , CM000666.1:g.79387367G>A | GRCh37 |
| NC_000004.10:g.79606391G>A | NCBI36 |
| NG_015812.1:g.413644G>A | |
| NG_015812.2:g.413644G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.7035G>A | ENSP00000508201.1:p.Glu2345= | |
| ENST00000512123.4:c.7035G>A MANE Select | ENSP00000422834.2:p.Glu2345= | |
| ENST00000512123.3:c.7035G>A | ENSP00000422834.2:p.Glu2345= | |
| NM_025074.6:c.7035G>A | NP_079350.5:p.Glu2345= | |
| XM_006714314.1:c.7029G>A | XP_006714377.1:p.Glu2343= | |
| XM_006714316.1:c.7029+1630G>A | XP_006714379.1:n.7029+1630G>A | |
| XM_011532270.1:c.4734G>A | XP_011530572.1:p.Glu1578= | |
| XM_011532271.1:c.1923G>A | XP_011530573.1:p.Glu641= | |
| XM_006714316.3:c.7029+1630G>A | XP_006714379.1:n.7029+1630G>A | |
| NM_025074.7:c.7035G>A MANE Select | NP_079350.5:p.Glu2345= |