Linked Data
dbSNP Id:
rs766685708
ExAC:
19:10226232 G / A
gnomAD v2:
19-10226232-G-A
gnomAD v3:
19-10115556-G-A
gnomAD v4:
19-10115556-G-A
COSMIC:
COSM6226535
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115556G>A , CM000681.2:g.10115556G>A | GRCh38 |
| NC_000019.9:g.10226232G>A , CM000681.1:g.10226232G>A | GRCh37 |
| NC_000019.8:g.10087232G>A | NCBI36 |
| NG_047007.1:g.9036G>A | |
| NG_051197.1:g.9369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.870C>T MANE Select | ENSP00000253108.3:p.Arg290= | |
| ENST00000253108.8:c.870C>T | ENSP00000253108.3:p.Arg290= | |
| ENST00000589454.5:c.846C>T | ENSP00000466860.1:p.Arg282= | |
| ENST00000590158.1:n.889C>T | ||
| ENST00000593054.5:c.264C>T | ENSP00000467187.1:p.Arg88= | |
| NM_003755.3:c.870C>T | NP_003746.2:p.Arg290= | |
| NM_003755.4:c.870C>T | NP_003746.2:p.Arg290= | |
| NM_003755.5:c.870C>T MANE Select | NP_003746.2:p.Arg290= |