Linked Data
ClinVar Variation Id:
221229
ClinVar RCV Id:
RCV000206984
dbSNP Id:
rs781563777
PubMed:
PMID:26063658
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122488946G>C , CM000672.2:g.122488946G>C | GRCh38 |
| NC_000010.10:g.124248462G>C , CM000672.1:g.124248462G>C | GRCh37 |
| NC_000010.9:g.124238452G>C | NCBI36 |
| NG_011554.1:g.32422G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.517G>C MANE Select | ENSP00000357980.3:p.Ala173Pro | |
| ENST00000648167.1:c.199G>C | ENSP00000498033.1:p.Ala67Pro | |
| ENST00000368984.7:c.517G>C | ENSP00000357980.3:p.Ala173Pro | |
| NM_002775.4:c.517G>C | NP_002766.1:p.Ala173Pro | |
| NM_002775.5:c.517G>C MANE Select | NP_002766.1:p.Ala173Pro |