Linked Data
ClinVar Variation Id:
648748
ClinVar RCV Id:
RCV000803548
dbSNP Id:
rs1217897117
gnomAD v4:
16-89919674-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919674C>G , CM000678.2:g.89919674C>G | GRCh38 |
| NC_000016.9:g.89986082C>G , CM000678.1:g.89986082C>G | GRCh37 |
| NC_000016.8:g.88513583C>G | NCBI36 |
| NG_012026.1:g.6796C>G | |
| NG_027810.1:g.2666C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.416C>G MANE Select | ENSP00000451605.1:p.Ala139Gly | |
| ENST00000639847.1:c.416C>G | ENSP00000492011.1:p.Ala139Gly | |
| ENST00000555147.1:c.416C>G | ENSP00000451605.1:p.Ala139Gly | |
| ENST00000555427.1:c.416C>G | ENSP00000451760.1:p.Ala139Gly | |
| ENST00000556922.1:c.416C>G | ENSP00000451560.1:p.Ala139Gly | |
| NM_002386.3:c.416C>G | NP_002377.4:p.Ala139Gly | |
| NM_002386.4:c.416C>G MANE Select | NP_002377.4:p.Ala139Gly |