Linked Data
ClinVar Variation Id:
427193
ClinVar RCV Id:
RCV000489942
dbSNP Id:
rs151006739
ExAC:
10:135179555 C / T
gnomAD v2:
10-135179555-C-T
gnomAD v3:
10-133366051-C-T
gnomAD v4:
10-133366051-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366051C>T , CM000672.2:g.133366051C>T | GRCh38 |
| NC_000010.10:g.135179555C>T , CM000672.1:g.135179555C>T | GRCh37 |
| NC_000010.9:g.135029545C>T | NCBI36 |
| NG_042077.1:g.12354G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368547.4:c.664G>A MANE Select | ENSP00000357535.3:p.Ala222Thr | |
| ENST00000368547.3:c.664G>A | ENSP00000357535.3:p.Ala222Thr | |
| NM_004092.3:c.664G>A | NP_004083.3:p.Ala222Thr | |
| XR_002956965.1:n.1520G>A | ||
| NM_004092.4:c.664G>A MANE Select | NP_004083.3:p.Ala222Thr |