Linked Data
ClinVar Variation Id:
1121482
ClinVar RCV Id:
RCV001451782
dbSNP Id:
rs760864532
ExAC:
10:50701226 G / A
gnomAD v2:
10-50701226-G-A
gnomAD v3:
10-49493180-G-A
gnomAD v4:
10-49493180-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493180G>A , CM000672.2:g.49493180G>A | GRCh38 |
| NC_000010.10:g.50701226G>A , CM000672.1:g.50701226G>A | GRCh37 |
| NC_000010.9:g.50371232G>A | NCBI36 |
| NG_009442.1:g.50922C>T , LRG_465:g.50922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1758C>T MANE Select | ENSP00000348089.5:p.His586= | |
| ENST00000681632.1:n.1836C>T | ||
| ENST00000681659.1:c.1599C>T | ENSP00000505631.1:p.His533= | |
| ENST00000355832.9:c.1758C>T | ENSP00000348089.5:p.His586= | |
| ENST00000475116.1:n.275+7358C>T | ||
| ENST00000623073.3:c.159C>T | ENSP00000485650.1:p.His53= | |
| ENST00000623115.3:c.-70+7358C>T | ENSP00000485321.1:n.-70+7358C>T | |
| ENST00000623318.1:c.159C>T | ENSP00000485423.1:p.His53= | |
| NM_000124.3:c.1758C>T | NP_000115.1:p.His586= | |
| NM_001346440.1:c.1758C>T | NP_001333369.1:p.His586= | |
| NM_000124.4:c.1758C>T MANE Select | NP_000115.1:p.His586= | |
| NM_001346440.2:c.1758C>T | NP_001333369.1:p.His586= |