Linked Data
ClinVar Variation Id:
2729314
ClinVar RCV Id:
RCV003529358
dbSNP Id:
rs571772261
ExAC:
3:93603712 C / T
gnomAD v2:
3-93603712-C-T
gnomAD v3:
3-93884868-C-T
gnomAD v4:
3-93884868-C-T
COSMIC:
COSM1048915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93884868C>T , CM000665.2:g.93884868C>T | GRCh38 |
| NC_000003.11:g.93603712C>T , CM000665.1:g.93603712C>T | GRCh37 |
| NC_000003.10:g.95086402C>T | NCBI36 |
| NG_009813.1:g.94223G>A , LRG_572:g.94223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1352G>A | ENSP00000330021.7:p.Arg451Gln | |
| ENST00000394236.9:c.1352G>A MANE Select | ENSP00000377783.3:p.Arg451Gln | |
| ENST00000407433.6:c.1307G>A | ENSP00000385794.2:p.Arg436Gln | |
| ENST00000647936.1:c.1352G>A | ENSP00000496822.1:p.Arg451Gln | |
| ENST00000648381.1:n.1520G>A | ||
| ENST00000648853.1:c.1310G>A | ENSP00000497262.1:p.Arg437Gln | |
| ENST00000649103.1:c.1451G>A | ENSP00000497962.1:n.1451G>A | |
| ENST00000649585.1:c.107G>A | ENSP00000498163.1:p.Arg36Gln | |
| ENST00000650591.1:c.1448G>A | ENSP00000497376.1:p.Arg483Gln | |
| ENST00000394236.7:c.1352G>A | ENSP00000377783.3:p.Arg451Gln | |
| ENST00000407433.5:c.959G>A | ENSP00000385794.1:p.Arg320Gln | |
| NM_000313.3:c.1352G>A , LRG_572t1:c.1352G>A | NP_000304.2:p.Arg451Gln | |
| NM_001314077.1:c.1448G>A , LRG_572t2:c.1448G>A | NP_001301006.1:p.Arg483Gln | |
| NM_000313.4:c.1352G>A MANE Select | NP_000304.2:p.Arg451Gln | |
| NM_001314077.2:c.1448G>A | NP_001301006.1:p.Arg483Gln |