Linked Data
dbSNP Id:
rs766162602
ExAC:
10:50708646 C / G
gnomAD v2:
10-50708646-C-G
gnomAD v4:
10-49500600-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49500600C>G , CM000672.2:g.49500600C>G | GRCh38 |
| NC_000010.10:g.50708646C>G , CM000672.1:g.50708646C>G | GRCh37 |
| NC_000010.9:g.50378652C>G | NCBI36 |
| NG_009442.1:g.43502G>C , LRG_465:g.43502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1623G>C MANE Select | ENSP00000348089.5:p.Gln541His | |
| ENST00000681632.1:n.1701G>C | ||
| ENST00000681659.1:c.1526+5284G>C | ENSP00000505631.1:n.1526+5284G>C | |
| ENST00000355832.9:c.1623G>C | ENSP00000348089.5:p.Gln541His | |
| ENST00000475116.1:n.213G>C | ||
| ENST00000623073.3:c.24G>C | ENSP00000485650.1:p.Gln8His | |
| ENST00000623115.3:c.-132G>C | ENSP00000485321.1:n.-132G>C | |
| ENST00000623318.1:c.24G>C | ENSP00000485423.1:p.Gln8His | |
| NM_000124.3:c.1623G>C | NP_000115.1:p.Gln541His | |
| NM_001346440.1:c.1623G>C | NP_001333369.1:p.Gln541His | |
| NM_000124.4:c.1623G>C MANE Select | NP_000115.1:p.Gln541His | |
| NM_001346440.2:c.1623G>C | NP_001333369.1:p.Gln541His |