Linked Data
dbSNP Id:
rs780068262
ExAC:
1:55527125 C / A
gnomAD v2:
1-55527125-C-A
gnomAD v3:
1-55061452-C-A
gnomAD v4:
1-55061452-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061452C>A , CM000663.2:g.55061452C>A | GRCh38 |
| NC_000001.10:g.55527125C>A , CM000663.1:g.55527125C>A | GRCh37 |
| NC_000001.9:g.55299713C>A | NCBI36 |
| NG_009061.1:g.26906C>A , LRG_275:g.26906C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*99C>A | ENSP00000501161.2:n.*99C>A | |
| ENST00000710286.1:c.2116C>A | ENSP00000518176.1:p.Gln706Lys | |
| ENST00000673903.1:c.1384C>A | ENSP00000501257.1:p.Gln462Lys | |
| ENST00000673913.1:c.609C>A | ENSP00000501161.1:n.609C>A | |
| ENST00000302118.5:c.1759C>A MANE Select | ENSP00000303208.5:p.Gln587Lys | |
| ENST00000490692.1:n.2305C>A | ||
| NM_174936.3:c.1759C>A , LRG_275t1:c.1759C>A | NP_777596.2:p.Gln587Lys | |
| NR_110451.1:n.1366C>A | ||
| XM_011541193.1:c.880C>A | XP_011539495.1:p.Gln294Lys | |
| NM_174936.4:c.1759C>A MANE Select | NP_777596.2:p.Gln587Lys | |
| NR_110451.2:n.1366C>A |