Linked Data
ClinVar Variation Id:
529445
dbSNP Id:
rs1176799813
gnomAD v3:
19-12893627-A-G
gnomAD v4:
19-12893627-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12893627A>G , CM000681.2:g.12893627A>G | GRCh38 |
| NC_000019.9:g.13004441A>G , CM000681.1:g.13004441A>G | GRCh37 |
| NC_000019.8:g.12865441A>G | NCBI36 |
| NG_009292.1:g.7468A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.479A>G MANE Select | ENSP00000222214.4:p.Gln160Arg | |
| ENST00000222214.9:c.479A>G | ENSP00000222214.4:p.Gln160Arg | |
| ENST00000421816.6:n.457A>G | ||
| ENST00000585420.5:n.844A>G | ||
| ENST00000587832.5:n.536A>G | ||
| ENST00000588905.5:c.443A>G | ENSP00000465770.1:p.Gln148Arg | |
| ENST00000589039.5:c.416A>G | ENSP00000465618.1:p.Gln139Arg | |
| ENST00000590530.5:c.534A>G | ENSP00000468452.1:p.Thr178= | |
| ENST00000590627.5:n.844A>G | ||
| ENST00000591043.1:n.515A>G | ||
| ENST00000591470.5:c.479A>G | ENSP00000466845.1:p.Gln160Arg | |
| NM_000159.3:c.479A>G | NP_000150.1:p.Gln160Arg | |
| NM_013976.3:c.479A>G | NP_039663.1:p.Gln160Arg | |
| NR_102316.1:n.642A>G | ||
| NR_102317.1:n.895A>G | ||
| XM_006722721.2:c.479A>G | XP_006722784.1:p.Gln160Arg | |
| XM_011527899.1:c.479A>G | XP_011526201.1:p.Gln160Arg | |
| XM_011527900.1:c.479A>G | XP_011526202.1:p.Gln160Arg | |
| XM_011527899.2:c.479A>G | XP_011526201.1:p.Gln160Arg | |
| XM_011527900.2:c.479A>G | XP_011526202.1:p.Gln160Arg | |
| XM_017026580.1:c.479A>G | XP_016882069.1:p.Gln160Arg | |
| NM_000159.4:c.479A>G MANE Select | NP_000150.1:p.Gln160Arg | |
| NM_013976.4:c.479A>G | NP_039663.1:p.Gln160Arg | |
| NM_013976.5:c.479A>G | NP_039663.1:p.Gln160Arg |