Linked Data
ClinVar Variation Id:
300034
dbSNP Id:
rs201813523
ExAC:
10:50666950 C / T
gnomAD v2:
10-50666950-C-T
gnomAD v3:
10-49458904-C-T
gnomAD v4:
10-49458904-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49458904C>T , CM000672.2:g.49458904C>T | GRCh38 |
| NC_000010.10:g.50666950C>T , CM000672.1:g.50666950C>T | GRCh37 |
| NC_000010.9:g.50336956C>T | NCBI36 |
| NG_009442.1:g.85198G>A , LRG_465:g.85198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.4393G>A MANE Select | ENSP00000348089.5:p.Val1465Ile | |
| ENST00000679552.1:n.2602G>A | ||
| ENST00000679871.1:n.1539G>A | ||
| ENST00000679974.1:n.1442G>A | ||
| ENST00000681632.1:n.5796G>A | ||
| ENST00000681659.1:c.4234G>A | ENSP00000505631.1:p.Val1412Ile | |
| ENST00000355832.9:c.4393G>A | ENSP00000348089.5:p.Val1465Ile | |
| ENST00000623073.3:c.*2689G>A | ENSP00000485650.1:n.*2689G>A | |
| ENST00000623115.3:c.2503G>A | ENSP00000485321.1:p.Val835Ile | |
| ENST00000624341.3:c.2225G>A | ||
| NM_000124.3:c.4393G>A | NP_000115.1:p.Val1465Ile | |
| XR_945953.1:n.243-12661C>T | ||
| NM_001346440.1:c.4393G>A | NP_001333369.1:p.Val1465Ile | |
| NM_000124.4:c.4393G>A MANE Select | NP_000115.1:p.Val1465Ile | |
| NM_001346440.2:c.4393G>A | NP_001333369.1:p.Val1465Ile |