Linked Data
ClinVar Variation Id:
56903
ClinVar RCV Id:
RCV000050240
dbSNP Id:
rs879255240
PubMed:
PMID:23738509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23566877G>T , CM000677.2:g.23566877G>T | GRCh38 |
| NC_000015.9:g.23812024G>T , CM000677.1:g.23812024G>T | GRCh37 |
| NC_000015.8:g.21363117G>T | NCBI36 |
| NG_012875.2:g.6571G>T | |
| NG_012875.3:g.6571G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314520.6:c.1095G>T MANE Select | ENSP00000313881.3:p.Arg365Ser | |
| ENST00000564592.2:c.375G>T | ENSP00000455368.1:p.Arg125Ser | |
| ENST00000647595.1:c.51+1044G>T | ENSP00000496869.1:n.51+1044G>T | |
| ENST00000649065.1:c.375G>T | ENSP00000496859.1:p.Arg125Ser | |
| ENST00000676568.1:c.927+168G>T | ENSP00000502884.1:n.927+168G>T | |
| ENST00000677119.1:c.305+790G>T | ENSP00000503815.1:n.305+790G>T | |
| ENST00000677372.1:c.318G>T | ||
| ENST00000678440.1:c.997G>T | ENSP00000503032.1:n.997G>T | |
| ENST00000679144.1:c.305+790G>T | ENSP00000504844.1:n.305+790G>T | |
| ENST00000314520.4:c.1095G>T | ENSP00000313881.3:p.Arg365Ser | |
| ENST00000564592.1:c.375G>T | ENSP00000455368.1:p.Arg125Ser | |
| ENST00000568252.1:c.305+790G>T | ENSP00000456779.1:n.305+790G>T | |
| ENST00000568945.2:n.323G>T | ||
| ENST00000570112.1:c.*34G>T | ENSP00000457884.1:n.*34G>T | |
| NM_005664.3:c.1095G>T | NP_005655.1:p.Arg365Ser | |
| NM_005664.4:c.1095G>T MANE Select | NP_005655.1:p.Arg365Ser |