Linked Data
ClinVar Variation Id:
475242
dbSNP Id:
rs8178208
ExAC:
8:48730122 C / T
gnomAD:
8:48730122 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47817561C>T , CM000670.2:g.47817561C>T | GRCh38 |
| NC_000008.10:g.48730122C>T , CM000670.1:g.48730122C>T | GRCh37 |
| NC_000008.9:g.48892675C>T | NCBI36 |
| NG_023435.1:g.147623G>A , LRG_162:g.147623G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314191.7:c.9446G>A MANE Select | ENSP00000313420.3:p.Gly3149Asp | |
| ENST00000314191.6:c.9446G>A | ENSP00000313420.3:p.Gly3149Asp | |
| ENST00000338368.7:c.9446G>A | ENSP00000345182.4:p.Gly3149Asp | |
| NM_001081640.1:c.9446G>A | NP_001075109.1:p.Gly3149Asp | |
| NM_006904.6:c.9446G>A , LRG_162t1:c.9446G>A | NP_008835.5:p.Gly3149Asp | |
| XM_011517567.1:c.9449G>A | XP_011515869.1:p.Gly3150Asp | |
| XM_011517568.1:c.9449G>A | XP_011515870.1:p.Gly3150Asp | |
| NM_001081640.2:c.9446G>A | NP_001075109.1:p.Gly3149Asp | |
| NM_006904.7:c.9446G>A MANE Select | NP_008835.5:p.Gly3149Asp |