Linked Data
ClinVar Variation Id:
2918265
ClinVar RCV Id:
RCV003737999
dbSNP Id:
rs749674398
ExAC:
10:50678890 C / G
gnomAD v2:
10-50678890-C-G
gnomAD v3:
10-49470844-C-G
gnomAD v4:
10-49470844-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470844C>G , CM000672.2:g.49470844C>G | GRCh38 |
| NC_000010.10:g.50678890C>G , CM000672.1:g.50678890C>G | GRCh37 |
| NC_000010.9:g.50348896C>G | NCBI36 |
| NG_009442.1:g.73258G>C , LRG_465:g.73258G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3116G>C MANE Select | ENSP00000348089.5:p.Arg1039Thr | |
| ENST00000679552.1:n.187G>C | ||
| ENST00000679871.1:n.262G>C | ||
| ENST00000679974.1:n.165G>C | ||
| ENST00000681632.1:n.4519G>C | ||
| ENST00000681659.1:c.2957G>C | ENSP00000505631.1:p.Arg986Thr | |
| ENST00000355832.9:c.3116G>C | ENSP00000348089.5:p.Arg1039Thr | |
| ENST00000623073.3:c.*1412G>C | ENSP00000485650.1:n.*1412G>C | |
| ENST00000623115.3:c.1226G>C | ENSP00000485321.1:p.Arg409Thr | |
| ENST00000624341.3:c.948G>C | ||
| NM_000124.3:c.3116G>C | NP_000115.1:p.Arg1039Thr | |
| XR_945953.1:n.243-721C>G | ||
| NM_001346440.1:c.3116G>C | NP_001333369.1:p.Arg1039Thr | |
| NM_000124.4:c.3116G>C MANE Select | NP_000115.1:p.Arg1039Thr | |
| NM_001346440.2:c.3116G>C | NP_001333369.1:p.Arg1039Thr |