Linked Data
ClinVar Variation Id:
4258
dbSNP Id:
rs121908097
ExAC:
2:219679425 G / A
gnomAD v2:
2-219679425-G-A
gnomAD v3:
2-218814702-G-A
gnomAD v4:
2-218814702-G-A
COSMIC:
COSM239505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814702G>A , CM000664.2:g.218814702G>A | GRCh38 |
| NC_000002.11:g.219679425G>A , CM000664.1:g.219679425G>A | GRCh37 |
| NC_000002.10:g.219387669G>A | NCBI36 |
| NG_007959.1:g.37954G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258415.9:c.1421G>A MANE Select | ENSP00000258415.4:p.Arg474Gln | |
| ENST00000258415.8:c.1421G>A | ENSP00000258415.4:p.Arg474Gln | |
| ENST00000494263.5:n.2133G>A | ||
| NM_000784.3:c.1421G>A | NP_000775.1:p.Arg474Gln | |
| XM_017003488.2:c.1001G>A | XP_016858977.1:p.Arg334Gln | |
| NM_000784.4:c.1421G>A MANE Select | NP_000775.1:p.Arg474Gln |