Linked Data
ClinVar Variation Id:
134121
ClinVar RCV Id:
RCV000120793
dbSNP Id:
rs143140054
ExAC:
2:128016907 C / T
gnomAD v2:
2-128016907-C-T
gnomAD v3:
2-127259331-C-T
gnomAD v4:
2-127259331-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127259331C>T , CM000664.2:g.127259331C>T | GRCh38 |
| NC_000002.11:g.128016907C>T , CM000664.1:g.128016907C>T | GRCh37 |
| NC_000002.10:g.127733377C>T | NCBI36 |
| NG_007454.1:g.39846G>A , LRG_462:g.39846G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2182G>A MANE Select | ENSP00000285398.2:p.Val728Met | |
| ENST00000644317.1:c.*1671G>A | ENSP00000494012.1:n.*1671G>A | |
| ENST00000645233.1:c.*2394G>A | ENSP00000494116.1:n.*2394G>A | |
| ENST00000645467.1:c.*954G>A | ENSP00000494889.1:n.*954G>A | |
| ENST00000645736.1:c.1853G>A | ENSP00000494545.1:n.1853G>A | |
| ENST00000646042.1:n.2917G>A | ||
| ENST00000646654.1:c.*1649G>A | ENSP00000494526.1:n.*1649G>A | |
| ENST00000647169.1:c.2257G>A | ENSP00000495619.1:p.Val753Met | |
| ENST00000647496.1:c.396-1729G>A | ||
| ENST00000285398.6:c.2182G>A | ENSP00000285398.2:p.Val728Met | |
| ENST00000426778.5:c.*2163G>A | ENSP00000415335.1:n.*2163G>A | |
| ENST00000445889.5:c.*2225G>A | ENSP00000390888.1:n.*2225G>A | |
| ENST00000491292.5:n.3552G>A | ||
| NM_000122.1:c.2182G>A , LRG_462t1:c.2182G>A | NP_000113.1:p.Val728Met | |
| NM_001303416.1:c.1990G>A | NP_001290345.1:p.Val664Met | |
| NM_001303418.1:c.1990G>A | NP_001290347.1:p.Val664Met | |
| XM_011510794.1:c.2200G>A | XP_011509096.1:p.Val734Met | |
| XM_011510795.1:c.1744G>A | XP_011509097.1:p.Val582Met | |
| XM_011510794.2:c.2200G>A | XP_011509096.1:p.Val734Met | |
| XM_017003583.1:c.1726G>A | XP_016859072.1:p.Val576Met | |
| NM_000122.2:c.2182G>A MANE Select | NP_000113.1:p.Val728Met | |
| NM_001303416.2:c.1990G>A | NP_001290345.1:p.Val664Met | |
| NM_001303418.2:c.1990G>A | NP_001290347.1:p.Val664Met |