Linked Data
ClinVar Variation Id:
493036
ClinVar RCV Id:
RCV000585123
RCV003446161
RCV003446157
RCV003446158
RCV003446159
RCV003446160
RCV001037132
dbSNP Id:
rs920394412
gnomAD v3:
1-42929236-C-T
gnomAD v4:
1-42929236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929236C>T , CM000663.2:g.42929236C>T | GRCh38 |
| NC_000001.10:g.43394907C>T , CM000663.1:g.43394907C>T | GRCh37 |
| NC_000001.9:g.43167494C>T | NCBI36 |
| NG_008232.1:g.34941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.946G>A MANE Select | ENSP00000416293.2:p.Val316Ile | |
| ENST00000674545.1:n.264G>A | ||
| ENST00000674765.1:c.946G>A | ENSP00000501811.1:p.Val316Ile | |
| ENST00000675112.1:n.1247G>A | ||
| ENST00000676254.1:n.1395G>A | ||
| ENST00000426263.7:c.946G>A | ENSP00000416293.2:p.Val316Ile | |
| ENST00000439722.2:c.825G>A | ENSP00000395521.2:n.825G>A | |
| ENST00000475162.3:c.415+1390G>A | ||
| ENST00000630287.2:c.*261G>A | ENSP00000486694.1:n.*261G>A | |
| NM_006516.2:c.946G>A | NP_006507.2:p.Val316Ile | |
| NM_006516.3:c.946G>A | NP_006507.2:p.Val316Ile | |
| NM_006516.4:c.946G>A MANE Select | NP_006507.2:p.Val316Ile |