Linked Data
ClinVar Variation Id:
410715
dbSNP Id:
rs1049324
ExAC:
7:75932045 G / A
gnomAD v2:
7-75932045-G-A
gnomAD v3:
7-76302728-G-A
gnomAD v4:
7-76302728-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76302728G>A , CM000669.2:g.76302728G>A | GRCh38 |
| NC_000007.13:g.75932045G>A , CM000669.1:g.75932045G>A | GRCh37 |
| NC_000007.12:g.75769981G>A | NCBI36 |
| NG_008995.1:g.5171G>A , LRG_248:g.5171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.16G>A MANE Select | ENSP00000248553.6:p.Val6Ile | |
| ENST00000674547.1:c.16G>A | ENSP00000502461.1:p.Val6Ile | |
| ENST00000674560.1:n.56G>A | ||
| ENST00000674638.1:c.16G>A | ENSP00000502651.1:p.Val6Ile | |
| ENST00000674650.1:c.16G>A | ENSP00000501628.1:p.Val6Ile | |
| ENST00000674965.1:c.16G>A | ENSP00000501765.1:p.Val6Ile | |
| ENST00000675134.1:c.16G>A | ENSP00000501831.1:p.Val6Ile | |
| ENST00000675226.1:c.16G>A | ENSP00000502510.1:p.Val6Ile | |
| ENST00000675488.1:n.56G>A | ||
| ENST00000675538.1:c.16G>A | ENSP00000502495.1:p.Val6Ile | |
| ENST00000675624.1:n.56G>A | ||
| ENST00000675733.1:n.56G>A | ||
| ENST00000675906.1:c.16G>A | ENSP00000502714.1:p.Val6Ile | |
| ENST00000676231.1:c.16G>A | ENSP00000502249.1:p.Val6Ile | |
| ENST00000676398.1:n.56G>A | ||
| ENST00000248553.6:c.16G>A | ENSP00000248553.6:p.Val6Ile | |
| ENST00000447574.1:c.16G>A | ENSP00000414357.1:p.Val6Ile | |
| NM_001540.3:c.16G>A , LRG_248t1:c.16G>A | NP_001531.1:p.Val6Ile | |
| NM_001540.4:c.16G>A | NP_001531.1:p.Val6Ile | |
| NM_001540.5:c.16G>A MANE Select | NP_001531.1:p.Val6Ile |