Linked Data
dbSNP Id:
rs756533345
ExAC:
18:50432603 G / A
gnomAD v2:
18-50432603-G-A
gnomAD v3:
18-52906233-G-A
gnomAD v4:
18-52906233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52906233G>A , CM000680.2:g.52906233G>A | GRCh38 |
| NC_000018.9:g.50432603G>A , CM000680.1:g.50432603G>A | GRCh37 |
| NC_000018.8:g.48686601G>A | NCBI36 |
| NG_013341.1:g.571062G>A | |
| NG_013341.2:g.571062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.602G>A MANE Select | ENSP00000389140.2:p.Arg201Gln | |
| ENST00000304775.12:c.403G>A | ||
| ENST00000412726.5:c.533G>A | ENSP00000397322.2:p.Arg178Gln | |
| ENST00000442544.6:c.602G>A | ENSP00000389140.2:p.Arg201Gln | |
| ENST00000579349.1:c.523G>A | ||
| ENST00000580024.1:n.515G>A | ||
| ENST00000581559.1:c.523G>A | ENSP00000463463.1:n.523G>A | |
| NM_005215.3:c.602G>A | NP_005206.2:p.Arg201Gln | |
| XM_011525843.1:c.602G>A | XP_011524145.1:p.Arg201Gln | |
| XM_011525845.1:c.602G>A | XP_011524147.1:p.Arg201Gln | |
| XM_011525846.1:c.602G>A | XP_011524148.1:p.Arg201Gln | |
| XM_017025568.1:c.602G>A | XP_016881057.1:p.Arg201Gln | |
| XM_017025569.1:c.602G>A | XP_016881058.1:p.Arg201Gln | |
| NM_005215.4:c.602G>A MANE Select | NP_005206.2:p.Arg201Gln |