Linked Data
ClinVar Variation Id:
218360
dbSNP Id:
rs61734479
ExAC:
14:92403294 C / T
gnomAD v2:
14-92403294-C-T
gnomAD v3:
14-91936950-C-T
gnomAD v4:
14-91936950-C-T
PubMed:
PMID:21576112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91936950C>T , CM000676.2:g.91936950C>T | GRCh38 |
| NC_000014.8:g.92403294C>T , CM000676.1:g.92403294C>T | GRCh37 |
| NC_000014.7:g.91473047C>T | NCBI36 |
| NG_008254.1:g.15753G>A , LRG_364:g.15753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*342G>A | ENSP00000451002.1:n.*342G>A | |
| ENST00000557570.2:c.208G>A | ENSP00000450787.2:p.Val70Met | |
| ENST00000706676.1:c.550G>A | ENSP00000516492.1:p.Val184Met | |
| ENST00000706677.1:c.376G>A | ENSP00000516493.1:p.Val126Met | |
| ENST00000706679.1:c.208G>A | ENSP00000516494.1:p.Val70Met | |
| ENST00000706680.1:c.*342G>A | ENSP00000516495.1:n.*342G>A | |
| ENST00000706681.1:c.*118+182G>A | ENSP00000516496.1:n.*118+182G>A | |
| ENST00000342058.9:c.376G>A MANE Select | ENSP00000345008.4:p.Val126Met | |
| ENST00000267620.14:c.499G>A | ENSP00000267620.10:p.Val167Met | |
| ENST00000342058.8:c.376G>A | ENSP00000345008.4:p.Val126Met | |
| ENST00000556154.5:c.391G>A | ENSP00000451982.1:p.Val131Met | |
| ENST00000557088.5:c.*342G>A | ENSP00000451002.1:n.*342G>A | |
| NM_006329.3:c.376G>A , LRG_364t1:c.376G>A | NP_006320.2:p.Val126Met | |
| XM_005267267.3:c.427G>A | XP_005267324.1:p.Val143Met | |
| XM_011536356.1:c.427G>A | XP_011534658.1:p.Val143Met | |
| XM_011536357.1:c.376G>A | XP_011534659.1:p.Val126Met | |
| XM_011536358.1:c.208G>A | XP_011534660.1:p.Val70Met | |
| XM_011536357.2:c.376G>A | XP_011534659.1:p.Val126Met | |
| XM_011536358.2:c.208G>A | XP_011534660.1:p.Val70Met | |
| XM_017020929.2:c.208G>A | XP_016876418.1:p.Val70Met | |
| NM_001384158.1:c.499G>A | NP_001371087.1:p.Val167Met | |
| NM_001384159.1:c.427G>A | NP_001371088.1:p.Val143Met | |
| NM_001384160.1:c.376G>A | NP_001371089.1:p.Val126Met | |
| NM_001384161.1:c.208G>A | NP_001371090.1:p.Val70Met | |
| NM_001384162.1:c.208G>A | NP_001371091.1:p.Val70Met | |
| NM_006329.4:c.376G>A MANE Select | NP_006320.2:p.Val126Met |