Linked Data
ClinVar Variation Id:
958044
ClinVar RCV Id:
RCV001231132
dbSNP Id:
rs369807854
ExAC:
16:89986330 G / A
gnomAD v2:
16-89986330-G-A
gnomAD v3:
16-89919922-G-A
gnomAD v4:
16-89919922-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919922G>A , CM000678.2:g.89919922G>A | GRCh38 |
| NC_000016.9:g.89986330G>A , CM000678.1:g.89986330G>A | GRCh37 |
| NC_000016.8:g.88513831G>A | NCBI36 |
| NG_012026.1:g.7044G>A | |
| NG_027810.1:g.2914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.664G>A MANE Select | ENSP00000451605.1:p.Ala222Thr | |
| ENST00000639847.1:c.664G>A | ENSP00000492011.1:p.Ala222Thr | |
| ENST00000555147.1:c.664G>A | ENSP00000451605.1:p.Ala222Thr | |
| ENST00000555427.1:c.664G>A | ENSP00000451760.1:p.Ala222Thr | |
| ENST00000556922.1:c.664G>A | ENSP00000451560.1:p.Ala222Thr | |
| NM_002386.3:c.664G>A | NP_002377.4:p.Ala222Thr | |
| NM_002386.4:c.664G>A MANE Select | NP_002377.4:p.Ala222Thr |