Linked Data
ClinVar Variation Id:
726347
ClinVar RCV Id:
RCV000900553
dbSNP Id:
rs749963367
ExAC:
21:43176829 C / T
gnomAD v2:
21-43176829-C-T
gnomAD v3:
21-41756669-C-T
gnomAD v4:
21-41756669-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41756669C>T , CM000683.2:g.41756669C>T | GRCh38 |
| NC_000021.8:g.43176829C>T , CM000683.1:g.43176829C>T | GRCh37 |
| NC_000021.7:g.42049898C>T | NCBI36 |
| NG_032113.1:g.15421G>A | |
| NG_032113.2:g.15421G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.330G>A MANE Select | ENSP00000332454.3:p.Ser110= | |
| ENST00000332512.7:c.330G>A | ENSP00000332454.3:p.Ser110= | |
| ENST00000352483.3:c.330G>A | ENSP00000330161.2:p.Ser110= | |
| NM_020639.2:c.330G>A | NP_065690.2:p.Ser110= | |
| NM_020639.3:c.330G>A MANE Select | NP_065690.2:p.Ser110= |