Linked Data
ClinVar Variation Id:
2049267
ClinVar RCV Id:
RCV002932301
dbSNP Id:
rs767621835
ExAC:
10:50669473 C / T
gnomAD v2:
10-50669473-C-T
gnomAD v3:
10-49461427-C-T
gnomAD v4:
10-49461427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461427C>T , CM000672.2:g.49461427C>T | GRCh38 |
| NC_000010.10:g.50669473C>T , CM000672.1:g.50669473C>T | GRCh37 |
| NC_000010.9:g.50339479C>T | NCBI36 |
| NG_009442.1:g.82675G>A , LRG_465:g.82675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3908G>A MANE Select | ENSP00000348089.5:p.Arg1303Gln | |
| ENST00000679552.1:n.979G>A | ||
| ENST00000679871.1:n.1054G>A | ||
| ENST00000679974.1:n.957G>A | ||
| ENST00000681632.1:n.5311G>A | ||
| ENST00000681659.1:c.3749G>A | ENSP00000505631.1:p.Arg1250Gln | |
| ENST00000355832.9:c.3908G>A | ENSP00000348089.5:p.Arg1303Gln | |
| ENST00000465653.1:n.230G>A | ||
| ENST00000623073.3:c.*2204G>A | ENSP00000485650.1:n.*2204G>A | |
| ENST00000623115.3:c.2018G>A | ENSP00000485321.1:p.Arg673Gln | |
| ENST00000624341.3:c.1740G>A | ||
| NM_000124.3:c.3908G>A | NP_000115.1:p.Arg1303Gln | |
| XR_945953.1:n.243-10138C>T | ||
| NM_001346440.1:c.3908G>A | NP_001333369.1:p.Arg1303Gln | |
| NM_000124.4:c.3908G>A MANE Select | NP_000115.1:p.Arg1303Gln | |
| NM_001346440.2:c.3908G>A | NP_001333369.1:p.Arg1303Gln |