Linked Data
ClinVar Variation Id:
1525543
ClinVar RCV Id:
RCV002050380
dbSNP Id:
rs1309782466
gnomAD v2:
14-76452139-T-A
gnomAD v3:
14-75985796-T-A
gnomAD v4:
14-75985796-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75985796T>A , CM000676.2:g.75985796T>A | GRCh38 |
| NC_000014.8:g.76452139T>A , CM000676.1:g.76452139T>A | GRCh37 |
| NC_000014.7:g.75521892T>A | NCBI36 |
| NG_011715.1:g.954A>T , LRG_399:g.954A>T | |
| NG_031957.1:g.5044T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314067.11:c.10T>A MANE Select | ENSP00000324177.6:p.Leu4Met | |
| ENST00000679083.1:c.-237T>A | ENSP00000504736.1:n.-237T>A | |
| ENST00000238628.10:c.10T>A | ENSP00000238628.6:p.Leu4Met | |
| ENST00000314067.10:c.10T>A | ENSP00000324177.6:p.Leu4Met | |
| ENST00000542766.5:c.10T>A | ENSP00000440064.1:p.Leu4Met | |
| ENST00000553338.1:n.3T>A | ||
| ENST00000554026.5:n.17T>A | ||
| ENST00000555305.5:n.17T>A | ||
| ENST00000555370.5:c.10T>A | ENSP00000452051.1:p.Leu4Met | |
| ENST00000555677.5:n.90-3089T>A | ||
| ENST00000556742.1:c.10T>A | ENSP00000451096.1:p.Leu4Met | |
| NM_001102564.1:c.10T>A | NP_001096034.1:p.Leu4Met | |
| NM_001255995.1:c.10T>A | NP_001242924.1:p.Leu4Met | |
| NM_052873.2:c.10T>A | NP_443105.2:p.Leu4Met | |
| NR_045664.1:n.44T>A | ||
| NR_045665.1:n.44T>A | ||
| NM_001102564.2:c.10T>A | NP_001096034.1:p.Leu4Met | |
| NM_001255995.2:c.10T>A | NP_001242924.1:p.Leu4Met | |
| NM_052873.3:c.10T>A | NP_443105.2:p.Leu4Met | |
| NM_001102564.3:c.10T>A MANE Select | NP_001096034.1:p.Leu4Met | |
| NM_001255995.3:c.10T>A | NP_001242924.1:p.Leu4Met | |
| NR_045664.2:n.34T>A | ||
| NR_045665.2:n.34T>A |