Linked Data
ClinVar Variation Id:
15684
ClinVar RCV Id:
RCV000016973
dbSNP Id:
rs63749997
gnomAD v4:
16-173237-G-A
PubMed:
PMID:15008265
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173237G>A , CM000678.2:g.173237G>A | GRCh38 |
| NC_000016.9:g.223236G>A , CM000678.1:g.223236G>A | GRCh37 |
| NC_000016.8:g.163236G>A | NCBI36 |
| NG_000006.1:g.34100G>A | |
| NG_059186.1:g.1587G>A | |
| NG_059271.1:g.5391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.208G>A MANE Select | ENSP00000251595.6:p.Ala70Thr | |
| ENST00000251595.10:c.208G>A | ENSP00000251595.6:p.Ala70Thr | |
| ENST00000397806.1:c.112G>A | ENSP00000380908.1:p.Ala38Thr | |
| ENST00000482565.1:n.344G>A | ||
| ENST00000484216.1:n.177G>A | ||
| NM_000517.4:c.208G>A | NP_000508.1:p.Ala70Thr | |
| NM_000517.6:c.208G>A MANE Select | NP_000508.1:p.Ala70Thr |