Linked Data
ClinVar Variation Id:
224869
ClinVar RCV Id:
RCV000210450
dbSNP Id:
rs869312902
PubMed:
PMID:23023332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2228828T>G , CM000663.2:g.2228828T>G | GRCh38 |
| NC_000001.10:g.2160267T>G , CM000663.1:g.2160267T>G | GRCh37 |
| NC_000001.9:g.2150127T>G | NCBI36 |
| NG_013084.1:g.5134T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1304T>G | ||
| ENST00000378536.5:c.62T>G MANE Select | ENSP00000367797.4:p.Leu21Arg | |
| ENST00000378536.4:c.62T>G | ENSP00000367797.4:p.Leu21Arg | |
| NM_003036.3:c.62T>G | NP_003027.1:p.Leu21Arg | |
| XM_005244775.2:c.62T>G | XP_005244832.1:p.Leu21Arg | |
| XM_005244775.3:c.62T>G | XP_005244832.1:p.Leu21Arg | |
| NM_003036.4:c.62T>G MANE Select | NP_003027.1:p.Leu21Arg |