Revel Score:
ENST00000262186 (MANE Select)
0.803
ENST00000430723
0.803
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974719C>T , CM000669.2:g.150974719C>T | GRCh38 |
| NC_000007.13:g.150671807C>T , CM000669.1:g.150671807C>T | GRCh37 |
| NC_000007.12:g.150302740C>T | NCBI36 |
| NG_008916.1:g.8208G>A , LRG_288:g.8208G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.299G>A MANE Select | ENSP00000262186.5:p.Arg100Gln | |
| ENST00000262186.9:c.299G>A | ENSP00000262186.5:p.Arg100Gln | |
| ENST00000430723.4:c.122G>A | ENSP00000387657.4:p.Arg41Gln | |
| ENST00000532957.5:n.522G>A | ||
| NM_000238.3:c.299G>A , LRG_288t1:c.299G>A | NP_000229.1:p.Arg100Gln | |
| NM_172056.2:c.299G>A , LRG_288t2:c.299G>A | NP_742053.1:p.Arg100Gln | |
| XM_011516186.1:c.299G>A | XP_011514488.1:p.Arg100Gln | |
| XM_011516186.3:c.299G>A | XP_011514488.1:p.Arg100Gln | |
| XM_017012196.1:c.122G>A | XP_016867685.1:p.Arg41Gln | |
| NM_000238.4:c.299G>A MANE Select | NP_000229.1:p.Arg100Gln |