Linked Data
ClinVar Variation Id:
321896
dbSNP Id:
rs149785500
ExAC:
17:1578497 G / A
gnomAD v2:
17-1578497-G-A
gnomAD v3:
17-1675203-G-A
gnomAD v4:
17-1675203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1675203G>A , CM000679.2:g.1675203G>A | GRCh38 |
| NC_000017.10:g.1578497G>A , CM000679.1:g.1578497G>A | GRCh37 |
| NC_000017.9:g.1525247G>A | NCBI36 |
| NG_009118.1:g.14680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.3009C>T | ENSP00000460849.2:p.His1003= | |
| ENST00000703538.1:c.*2732C>T | ENSP00000515361.1:n.*2732C>T | |
| ENST00000703540.1:c.3009C>T | ENSP00000515362.1:p.His1003= | |
| ENST00000703541.1:c.2874C>T | ENSP00000515363.1:p.His958= | |
| ENST00000304992.11:c.3009C>T MANE Select | ENSP00000304350.6:p.His1003= | |
| ENST00000304992.10:c.3009C>T | ENSP00000304350.6:p.His1003= | |
| ENST00000572621.5:c.3009C>T | ENSP00000460348.1:p.His1003= | |
| ENST00000576958.1:n.328C>T | ||
| ENST00000577001.1:c.2844C>T | ENSP00000458151.1:p.His948= | |
| NM_006445.3:c.3009C>T | NP_006436.3:p.His1003= | |
| XM_024450537.1:c.3009C>T | XP_024306305.1:p.His1003= | |
| NM_006445.4:c.3009C>T MANE Select | NP_006436.3:p.His1003= |