Linked Data
ClinVar Variation Id:
167466
ClinVar RCV Id:
RCV000492963
dbSNP Id:
rs797044505
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118168C>T , CM000685.2:g.78118168C>T | GRCh38 |
| NC_000023.10:g.77373665C>T , CM000685.1:g.77373665C>T | GRCh37 |
| NC_000023.9:g.77260321C>T | NCBI36 |
| NG_008862.1:g.19000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.639C>T MANE Select | ENSP00000362413.4:p.Gly213= | |
| ENST00000644362.1:c.555C>T | ENSP00000496140.1:p.Gly185= | |
| ENST00000373316.4:c.639C>T | ENSP00000362413.4:p.Gly213= | |
| ENST00000491291.1:n.631C>T | ||
| NM_000291.3:c.639C>T | NP_000282.1:p.Gly213= | |
| NM_000291.4:c.639C>T MANE Select | NP_000282.1:p.Gly213= |