Linked Data
ClinVar Variation Id:
1017234
ClinVar RCV Id:
RCV001316359
dbSNP Id:
rs762016621
gnomAD v4:
12-4912022-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912022A>T , CM000674.2:g.4912022A>T | GRCh38 |
| NC_000012.11:g.5021188A>T , CM000674.1:g.5021188A>T | GRCh37 |
| NC_000012.10:g.4891449A>T | NCBI36 |
| NG_011815.1:g.7116A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.644A>T MANE Select | ENSP00000371985.3:p.Asn215Ile | |
| ENST00000543874.3:n.105+1550A>T | ||
| ENST00000639306.1:c.482A>T | ENSP00000492506.1:p.Asn161Ile | |
| ENST00000382545.3:c.644A>T | ENSP00000371985.3:p.Asn215Ile | |
| ENST00000541095.1:n.105+1550A>T | ||
| ENST00000543874.2:n.96+1550A>T | ||
| NM_000217.2:c.644A>T | NP_000208.2:p.Asn215Ile | |
| NM_000217.3:c.644A>T MANE Select | NP_000208.2:p.Asn215Ile |