Linked Data
ClinVar Variation Id:
696458
ClinVar RCV Id:
RCV000862824
dbSNP Id:
rs372929572
ExAC:
16:89986083 C / G
gnomAD v2:
16-89986083-C-G
gnomAD v3:
16-89919675-C-G
gnomAD v4:
16-89919675-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919675C>G , CM000678.2:g.89919675C>G | GRCh38 |
| NC_000016.9:g.89986083C>G , CM000678.1:g.89986083C>G | GRCh37 |
| NC_000016.8:g.88513584C>G | NCBI36 |
| NG_012026.1:g.6797C>G | |
| NG_027810.1:g.2667C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.417C>G MANE Select | ENSP00000451605.1:p.Ala139= | |
| ENST00000639847.1:c.417C>G | ENSP00000492011.1:p.Ala139= | |
| ENST00000555147.1:c.417C>G | ENSP00000451605.1:p.Ala139= | |
| ENST00000555427.1:c.417C>G | ENSP00000451760.1:p.Ala139= | |
| ENST00000556922.1:c.417C>G | ENSP00000451560.1:p.Ala139= | |
| NM_002386.3:c.417C>G | NP_002377.4:p.Ala139= | |
| NM_002386.4:c.417C>G MANE Select | NP_002377.4:p.Ala139= |