Linked Data
ClinVar Variation Id:
1422731
ClinVar RCV Id:
RCV001919692
dbSNP Id:
rs746832217
ExAC:
2:190440039 C / T
gnomAD v2:
2-190440039-C-T
gnomAD v4:
2-189575313-C-T
COSMIC:
COSM3575507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189575313C>T , CM000664.2:g.189575313C>T | GRCh38 |
| NC_000002.11:g.190440039C>T , CM000664.1:g.190440039C>T | GRCh37 |
| NC_000002.10:g.190148284C>T | NCBI36 |
| NG_009027.1:g.10499G>A , LRG_837:g.10499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.119G>A MANE Select | ENSP00000261024.3:p.Arg40Gln | |
| ENST00000261024.6:c.119G>A | ENSP00000261024.2:p.Arg40Gln | |
| ENST00000418714.1:n.560G>A | ||
| ENST00000427241.5:c.119G>A | ENSP00000390005.1:p.Arg40Gln | |
| ENST00000455320.5:c.119G>A | ENSP00000413549.1:p.Arg40Gln | |
| ENST00000479598.5:n.400G>A | ||
| NM_014585.5:c.119G>A , LRG_837t1:c.119G>A | NP_055400.1:p.Arg40Gln | |
| XM_005246505.1:c.-2G>A | XP_005246562.1:n.-2G>A | |
| XM_005246505.2:c.-2G>A | XP_005246562.1:n.-2G>A | |
| XM_017003938.2:c.-2G>A | XP_016859427.1:n.-2G>A | |
| NM_014585.6:c.119G>A MANE Select | NP_055400.1:p.Arg40Gln |