Linked Data
ClinVar Variation Id:
314467
dbSNP Id:
rs147933112
ExAC:
14:76455265 C / T
gnomAD v2:
14-76455265-C-T
gnomAD v3:
14-75988922-C-T
gnomAD v4:
14-75988922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75988922C>T , CM000676.2:g.75988922C>T | GRCh38 |
| NC_000014.8:g.76455265C>T , CM000676.1:g.76455265C>T | GRCh37 |
| NC_000014.7:g.75525018C>T | NCBI36 |
| NG_031957.1:g.8170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314067.11:c.92C>T MANE Select | ENSP00000324177.6:p.Ala31Val | |
| ENST00000679083.1:c.29C>T | ENSP00000504736.1:p.Ala10Val | |
| ENST00000238628.10:c.92C>T | ENSP00000238628.6:p.Ala31Val | |
| ENST00000314067.10:c.92C>T | ENSP00000324177.6:p.Ala31Val | |
| ENST00000542766.5:c.92C>T | ENSP00000440064.1:p.Ala31Val | |
| ENST00000553338.1:n.553C>T | ||
| ENST00000554026.5:n.99C>T | ||
| ENST00000555305.5:n.99C>T | ||
| ENST00000555370.5:c.*150C>T | ENSP00000452051.1:n.*150C>T | |
| ENST00000555677.5:n.127C>T | ||
| ENST00000556742.1:c.92C>T | ENSP00000451096.1:p.Ala31Val | |
| NM_001102564.1:c.92C>T | NP_001096034.1:p.Ala31Val | |
| NM_001255995.1:c.92C>T | NP_001242924.1:p.Ala31Val | |
| NM_052873.2:c.92C>T | NP_443105.2:p.Ala31Val | |
| NR_045664.1:n.126C>T | ||
| NR_045665.1:n.126C>T | ||
| NM_001102564.2:c.92C>T | NP_001096034.1:p.Ala31Val | |
| NM_001255995.2:c.92C>T | NP_001242924.1:p.Ala31Val | |
| NM_052873.3:c.92C>T | NP_443105.2:p.Ala31Val | |
| NM_001102564.3:c.92C>T MANE Select | NP_001096034.1:p.Ala31Val | |
| NM_001255995.3:c.92C>T | NP_001242924.1:p.Ala31Val | |
| NR_045664.2:n.116C>T | ||
| NR_045665.2:n.116C>T |