Linked Data
ClinVar Variation Id:
284539
ClinVar RCV Id:
RCV000261583
dbSNP Id:
rs762734699
ExAC:
10:50714004 G / A
gnomAD v2:
10-50714004-G-A
gnomAD v3:
10-49505958-G-A
gnomAD v4:
10-49505958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49505958G>A , CM000672.2:g.49505958G>A | GRCh38 |
| NC_000010.10:g.50714004G>A , CM000672.1:g.50714004G>A | GRCh37 |
| NC_000010.9:g.50384010G>A | NCBI36 |
| NG_009442.1:g.38144C>T , LRG_465:g.38144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1452C>T MANE Select | ENSP00000348089.5:p.Asp484= | |
| ENST00000679811.1:n.1535C>T | ||
| ENST00000681632.1:n.1530C>T | ||
| ENST00000681659.1:c.1452C>T | ENSP00000505631.1:p.Asp484= | |
| ENST00000355832.9:c.1452C>T | ENSP00000348089.5:p.Asp484= | |
| ENST00000475116.1:n.42C>T | ||
| ENST00000623073.3:c.-5335C>T | ENSP00000485650.1:n.-5335C>T | |
| ENST00000623788.1:n.451C>T | ||
| NM_000124.3:c.1452C>T | NP_000115.1:p.Asp484= | |
| NM_001346440.1:c.1452C>T | NP_001333369.1:p.Asp484= | |
| NM_000124.4:c.1452C>T MANE Select | NP_000115.1:p.Asp484= | |
| NM_001346440.2:c.1452C>T | NP_001333369.1:p.Asp484= |