Linked Data
ClinVar Variation Id:
193968
dbSNP Id:
rs370595480
ExAC:
9:133355803 G / A
gnomAD v2:
9-133355803-G-A
gnomAD v3:
9-130480416-G-A
gnomAD v4:
9-130480416-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480416G>A , CM000671.2:g.130480416G>A | GRCh38 |
| NC_000009.11:g.133355803G>A , CM000671.1:g.133355803G>A | GRCh37 |
| NC_000009.10:g.132345624G>A | NCBI36 |
| NG_011542.1:g.40710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.805G>A MANE Select | ENSP00000253004.6:p.Val269Met | |
| ENST00000352480.9:c.805G>A | ENSP00000253004.6:p.Val269Met | |
| ENST00000372386.6:n.76G>A | ||
| ENST00000372393.7:c.805G>A | ENSP00000361469.2:p.Val269Met | |
| ENST00000372394.5:c.805G>A | ENSP00000361471.1:p.Val269Met | |
| ENST00000470849.4:n.530G>A | ||
| ENST00000492400.5:n.314G>A | ||
| ENST00000493984.6:n.582G>A | ||
| NM_000050.4:c.805G>A | NP_000041.2:p.Val269Met | |
| NM_054012.3:c.805G>A | NP_446464.1:p.Val269Met | |
| XM_005272200.2:c.805G>A | XP_005272257.1:p.Val269Met | |
| XM_011518705.1:c.919G>A | XP_011517007.1:p.Val307Met | |
| XM_005272200.3:c.805G>A | XP_005272257.1:p.Val269Met | |
| XM_011518705.2:c.919G>A | XP_011517007.1:p.Val307Met | |
| XM_017014729.1:c.901G>A | XP_016870218.1:p.Val301Met | |
| NM_054012.4:c.805G>A MANE Select | NP_446464.1:p.Val269Met |