ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000261024 (MANE Select)
0.853
ENST00000427241
0.853
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189575202G>T , CM000664.2:g.189575202G>T | GRCh38 |
| NC_000002.11:g.190439928G>T , CM000664.1:g.190439928G>T | GRCh37 |
| NC_000002.10:g.190148173G>T | NCBI36 |
| NG_009027.1:g.10610C>A , LRG_837:g.10610C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.230C>A MANE Select | ENSP00000261024.3:p.Ala77Asp | |
| ENST00000261024.6:c.230C>A | ENSP00000261024.2:p.Ala77Asp | |
| ENST00000418714.1:n.671C>A | ||
| ENST00000427241.5:c.230C>A | ENSP00000390005.1:p.Ala77Asp | |
| ENST00000479598.5:n.511C>A | ||
| NM_014585.5:c.230C>A , LRG_837t1:c.230C>A | NP_055400.1:p.Ala77Asp | |
| XM_005246505.1:c.110C>A | XP_005246562.1:p.Ala37Asp | |
| XM_005246505.2:c.110C>A | XP_005246562.1:p.Ala37Asp | |
| XM_017003938.2:c.110C>A | XP_016859427.1:p.Ala37Asp | |
| NM_014585.6:c.230C>A MANE Select | NP_055400.1:p.Ala77Asp |