Linked Data
ClinVar Variation Id:
2731636
ClinVar RCV Id:
RCV003516208
dbSNP Id:
rs750618617
ExAC:
16:89986092 C / G
gnomAD v2:
16-89986092-C-G
gnomAD v3:
16-89919684-C-G
gnomAD v4:
16-89919684-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919684C>G , CM000678.2:g.89919684C>G | GRCh38 |
| NC_000016.9:g.89986092C>G , CM000678.1:g.89986092C>G | GRCh37 |
| NC_000016.8:g.88513593C>G | NCBI36 |
| NG_012026.1:g.6806C>G | |
| NG_027810.1:g.2676C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.426C>G MANE Select | ENSP00000451605.1:p.Arg142= | |
| ENST00000639847.1:c.426C>G | ENSP00000492011.1:p.Arg142= | |
| ENST00000555147.1:c.426C>G | ENSP00000451605.1:p.Arg142= | |
| ENST00000555427.1:c.426C>G | ENSP00000451760.1:p.Arg142= | |
| ENST00000556922.1:c.426C>G | ENSP00000451560.1:p.Arg142= | |
| NM_002386.3:c.426C>G | NP_002377.4:p.Arg142= | |
| NM_002386.4:c.426C>G MANE Select | NP_002377.4:p.Arg142= |