Linked Data
ClinVar Variation Id:
565729
ClinVar RCV Id:
RCV000685363
dbSNP Id:
rs1464535596
gnomAD v2:
7-5568028-G-A
gnomAD v3:
7-5528397-G-A
gnomAD v4:
7-5528397-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5528397G>A , CM000669.2:g.5528397G>A | GRCh38 |
| NC_000007.13:g.5568028G>A , CM000669.1:g.5568028G>A | GRCh37 |
| NC_000007.12:g.5534554G>A | NCBI36 |
| NG_007992.1:g.7205C>T , LRG_132:g.7205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432588.6:c.686C>T | ENSP00000407473.2:p.Thr229Met | |
| ENST00000473257.3:c.557C>T | ENSP00000501773.1:p.Thr186Met | |
| ENST00000477812.2:n.1233C>T | ||
| ENST00000493945.6:c.686C>T | ENSP00000494269.1:p.Thr229Met | |
| ENST00000642480.2:c.686C>T | ENSP00000495995.2:p.Thr229Met | |
| ENST00000645576.1:c.638C>T | ENSP00000496101.1:p.Thr213Met | |
| ENST00000646664.1:c.686C>T MANE Select | ENSP00000494750.1:p.Thr229Met | |
| ENST00000647275.1:c.320C>T | ENSP00000494185.1:p.Thr107Met | |
| ENST00000674681.1:c.686C>T | ENSP00000502821.1:p.Thr229Met | |
| ENST00000675515.1:c.686C>T | ENSP00000501862.1:p.Thr229Met | |
| ENST00000676189.1:c.*229C>T | ENSP00000502538.1:n.*229C>T | |
| ENST00000676319.1:c.88-614C>T | ENSP00000502193.1:n.88-614C>T | |
| ENST00000676397.1:c.686C>T | ENSP00000502286.1:p.Thr229Met | |
| ENST00000331789.9:c.686C>T | ENSP00000349960.4:p.Thr229Met | |
| ENST00000425660.5:c.*349C>T | ENSP00000409264.1:n.*349C>T | |
| ENST00000462494.5:n.1211C>T | ||
| ENST00000473257.1:n.404C>T | ||
| ENST00000484841.5:n.841C>T | ||
| ENST00000493945.5:n.692C>T | ||
| NM_001101.3:c.686C>T , LRG_132t1:c.686C>T | NP_001092.1:p.Thr229Met | |
| XM_006715764.1:c.320C>T | XP_006715827.1:p.Thr107Met | |
| NM_001101.4:c.686C>T | NP_001092.1:p.Thr229Met | |
| NM_001101.5:c.686C>T MANE Select | NP_001092.1:p.Thr229Met |