Linked Data
dbSNP Id:
rs769144569
ExAC:
2:241516033 G / A
gnomAD v2:
2-241516033-G-A
gnomAD v3:
2-240576616-G-A
gnomAD v4:
2-240576616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240576616G>A , CM000664.2:g.240576616G>A | GRCh38 |
| NC_000002.11:g.241516033G>A , CM000664.1:g.241516033G>A | GRCh37 |
| NC_000002.10:g.241164706G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1592G>A MANE Select | ENSP00000270357.4:p.Arg531Gln | |
| ENST00000270357.8:c.899G>A | ENSP00000270357.3:p.Arg300Gln | |
| ENST00000437406.1:c.158G>A | ENSP00000403319.1:p.Arg53Gln | |
| ENST00000451363.5:c.233G>A | ENSP00000414661.1:p.Arg78Gln | |
| ENST00000464550.5:n.428G>A | ||
| ENST00000471657.1:n.395G>A | ||
| ENST00000481757.5:n.2526G>A | ||
| ENST00000486058.5:n.1705G>A | ||
| ENST00000493398.5:n.738G>A | ||
| NM_018226.4:c.1592G>A | NP_060696.4:p.Arg531Gln | |
| XM_005247036.3:c.1559G>A | XP_005247093.1:p.Arg520Gln | |
| NM_018226.5:c.1592G>A | NP_060696.4:p.Arg531Gln | |
| XM_005247036.4:c.1559G>A | XP_005247093.1:p.Arg520Gln | |
| NM_018226.6:c.1592G>A MANE Select | NP_060696.4:p.Arg531Gln |