Linked Data
ClinVar Variation Id:
1963026
ClinVar RCV Id:
RCV002710854
dbSNP Id:
rs1567758423
gnomAD v2:
16-89986300-G-T
gnomAD v4:
16-89919892-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919892G>T , CM000678.2:g.89919892G>T | GRCh38 |
| NC_000016.9:g.89986300G>T , CM000678.1:g.89986300G>T | GRCh37 |
| NC_000016.8:g.88513801G>T | NCBI36 |
| NG_012026.1:g.7014G>T | |
| NG_027810.1:g.2884G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.634G>T MANE Select | ENSP00000451605.1:p.Ala212Ser | |
| ENST00000639847.1:c.634G>T | ENSP00000492011.1:p.Ala212Ser | |
| ENST00000555147.1:c.634G>T | ENSP00000451605.1:p.Ala212Ser | |
| ENST00000555427.1:c.634G>T | ENSP00000451760.1:p.Ala212Ser | |
| ENST00000556922.1:c.634G>T | ENSP00000451560.1:p.Ala212Ser | |
| NM_002386.3:c.634G>T | NP_002377.4:p.Ala212Ser | |
| NM_002386.4:c.634G>T MANE Select | NP_002377.4:p.Ala212Ser |