Linked Data
dbSNP Id:
rs761086051
ExAC:
10:50678409 A / T
gnomAD v2:
10-50678409-A-T
gnomAD v4:
10-49470363-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470363A>T , CM000672.2:g.49470363A>T | GRCh38 |
| NC_000010.10:g.50678409A>T , CM000672.1:g.50678409A>T | GRCh37 |
| NC_000010.9:g.50348415A>T | NCBI36 |
| NG_009442.1:g.73739T>A , LRG_465:g.73739T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3597T>A MANE Select | ENSP00000348089.5:p.His1199Gln | |
| ENST00000679552.1:n.668T>A | ||
| ENST00000679871.1:n.743T>A | ||
| ENST00000679974.1:n.646T>A | ||
| ENST00000681632.1:n.5000T>A | ||
| ENST00000681659.1:c.3438T>A | ENSP00000505631.1:p.His1146Gln | |
| ENST00000355832.9:c.3597T>A | ENSP00000348089.5:p.His1199Gln | |
| ENST00000623073.3:c.*1893T>A | ENSP00000485650.1:n.*1893T>A | |
| ENST00000623115.3:c.1707T>A | ENSP00000485321.1:p.His569Gln | |
| ENST00000624341.3:c.1429T>A | ||
| NM_000124.3:c.3597T>A | NP_000115.1:p.His1199Gln | |
| XR_945953.1:n.243-1202A>T | ||
| NM_001346440.1:c.3597T>A | NP_001333369.1:p.His1199Gln | |
| NM_000124.4:c.3597T>A MANE Select | NP_000115.1:p.His1199Gln | |
| NM_001346440.2:c.3597T>A | NP_001333369.1:p.His1199Gln |