Linked Data
ClinVar Variation Id:
99275
dbSNP Id:
rs61750140
ExAC:
1:94496020 C / T
gnomAD v2:
1-94496020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030464C>T , CM000663.2:g.94030464C>T | GRCh38 |
| NC_000001.10:g.94496020C>T , CM000663.1:g.94496020C>T | GRCh37 |
| NC_000001.9:g.94268608C>T | NCBI36 |
| NG_009073.1:g.95686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4316G>A MANE Select | ENSP00000359245.3:p.Gly1439Asp | |
| ENST00000370225.3:c.4316G>A | ENSP00000359245.3:p.Gly1439Asp | |
| ENST00000536513.5:c.692G>A | ENSP00000439707.2:p.Gly231Asp | |
| NM_000350.2:c.4316G>A | NP_000341.2:p.Gly1439Asp | |
| NM_000350.3:c.4316G>A MANE Select | NP_000341.2:p.Gly1439Asp |