Linked Data
ClinVar Variation Id:
15683
ClinVar RCV Id:
RCV000016972
dbSNP Id:
rs41510746
PubMed:
PMID:15008265
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173225G>A , CM000678.2:g.173225G>A | GRCh38 |
| NC_000016.9:g.223224G>A , CM000678.1:g.223224G>A | GRCh37 |
| NC_000016.8:g.163224G>A | NCBI36 |
| NG_000006.1:g.34088G>A | |
| NG_059186.1:g.1575G>A | |
| NG_059271.1:g.5379G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.196G>A MANE Select | ENSP00000251595.6:p.Ala66Thr | |
| ENST00000251595.10:c.196G>A | ENSP00000251595.6:p.Ala66Thr | |
| ENST00000397806.1:c.100G>A | ENSP00000380908.1:p.Ala34Thr | |
| ENST00000482565.1:n.332G>A | ||
| ENST00000484216.1:n.165G>A | ||
| NM_000517.4:c.196G>A | NP_000508.1:p.Ala66Thr | |
| NM_000517.6:c.196G>A MANE Select | NP_000508.1:p.Ala66Thr |