Linked Data
ClinVar Variation Id:
2511
ClinVar RCV Id:
RCV000002618
dbSNP Id:
rs104894647
PubMed:
PMID:10951468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122804A>G , CM000679.2:g.72122804A>G | GRCh38 |
| NC_000017.10:g.70118945A>G , CM000679.1:g.70118945A>G | GRCh37 |
| NC_000017.9:g.67630540A>G | NCBI36 |
| NG_012490.1:g.6785A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245479.3:c.517A>G MANE Select | ENSP00000245479.2:p.Lys173Glu | |
| ENST00000245479.2:c.517A>G | ENSP00000245479.2:p.Lys173Glu | |
| NM_000346.3:c.517A>G | NP_000337.1:p.Lys173Glu | |
| NM_000346.4:c.517A>G MANE Select | NP_000337.1:p.Lys173Glu |