Linked Data
ClinVar Variation Id:
2303098
ClinVar RCV Id:
RCV004152661
dbSNP Id:
rs376305207
gnomAD v3:
7-151186464-C-T
gnomAD v4:
7-151186464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186464C>T , CM000669.2:g.151186464C>T | GRCh38 |
| NC_000007.13:g.150883551C>T , CM000669.1:g.150883551C>T | GRCh37 |
| NC_000007.12:g.150514484C>T | NCBI36 |
| NG_017016.1:g.6369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.512G>A MANE Select | ENSP00000391137.2:p.Gly171Glu | |
| ENST00000275838.5:c.512G>A | ENSP00000275838.1:p.Gly171Glu | |
| ENST00000377867.7:c.467G>A | ENSP00000367098.3:p.Gly156Glu | |
| ENST00000420175.2:c.512G>A | ENSP00000391137.2:p.Gly171Glu | |
| NM_001142459.1:c.512G>A | NP_001135931.2:p.Gly171Glu | |
| NM_001142460.1:c.512G>A | NP_001135932.2:p.Gly171Glu | |
| NM_080871.3:c.467G>A | NP_543147.2:p.Gly156Glu | |
| XM_005249949.3:c.647G>A | XP_005250006.1:p.Gly216Glu | |
| NM_001142459.2:c.512G>A MANE Select | NP_001135931.2:p.Gly171Glu | |
| NM_080871.4:c.467G>A | NP_543147.2:p.Gly156Glu |