Linked Data
dbSNP Id:
rs200648991
ExAC:
19:7755350 C / T
gnomAD v2:
19-7755350-C-T
gnomAD v3:
19-7690464-C-T
gnomAD v4:
19-7690464-C-T
COSMIC:
COSM4581581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690464C>T , CM000681.2:g.7690464C>T | GRCh38 |
| NC_000019.9:g.7755350C>T , CM000681.1:g.7755350C>T | GRCh37 |
| NC_000019.8:g.7661350C>T | NCBI36 |
| NG_029554.1:g.16683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597921.6:c.563G>A MANE Select | ENSP00000471974.1:p.Arg188Gln | |
| ENST00000346664.9:c.563G>A | ENSP00000264072.6:p.Arg188Gln | |
| ENST00000360067.8:c.560G>A | ENSP00000353178.4:p.Arg187Gln | |
| ENST00000597312.5:n.1088G>A | ||
| ENST00000597921.5:c.563G>A | ENSP00000471974.1:p.Arg188Gln | |
| ENST00000597934.1:n.925G>A | ||
| ENST00000598803.5:n.1058G>A | ||
| NM_001207019.2:c.560G>A | NP_001193948.2:p.Arg187Gln | |
| NM_001220500.1:c.563G>A | NP_001207429.1:p.Arg188Gln | |
| NM_002002.4:c.563G>A | NP_001993.2:p.Arg188Gln | |
| XM_005272462.3:c.563G>A | XP_005272519.1:p.Arg188Gln | |
| XM_005272462.4:c.563G>A | XP_005272519.1:p.Arg188Gln | |
| NM_001220500.2:c.563G>A MANE Select | NP_001207429.1:p.Arg188Gln | |
| NM_001207019.3:c.560G>A | NP_001193948.2:p.Arg187Gln | |
| NM_002002.5:c.563G>A | NP_001993.2:p.Arg188Gln |