Linked Data
ClinVar Variation Id:
68079
dbSNP Id:
rs199473712
ExAC:
14:74727402 G / A
gnomAD v2:
14-74727402-G-A
gnomAD v3:
14-74260699-G-A
gnomAD v4:
14-74260699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74260699G>A , CM000676.2:g.74260699G>A | GRCh38 |
| NC_000014.8:g.74727402G>A , CM000676.1:g.74727402G>A | GRCh37 |
| NC_000014.7:g.73797155G>A | NCBI36 |
| NG_013092.1:g.26228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.866G>A MANE Select | ENSP00000261980.2:p.Gly289Asp | |
| ENST00000261980.2:c.866G>A | ENSP00000261980.2:p.Gly289Asp | |
| NM_182894.2:c.866G>A | NP_878314.1:p.Gly289Asp | |
| XM_011536719.1:c.923G>A | XP_011535021.1:p.Gly308Asp | |
| NM_182894.3:c.866G>A MANE Select | NP_878314.1:p.Gly289Asp |