Linked Data
ClinVar Variation Id:
42930
ClinVar RCV Id:
RCV000035822
dbSNP Id:
rs397516169
PubMed:
PMID:19864899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424083C>T , CM000676.2:g.23424083C>T | GRCh38 |
| NC_000014.8:g.23893292C>T , CM000676.1:g.23893292C>T | GRCh37 |
| NC_000014.7:g.22963132C>T | NCBI36 |
| NG_007884.1:g.16579G>A , LRG_384:g.16579G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2746G>A MANE Select | ENSP00000347507.3:p.Glu916Lys | |
| ENST00000355349.3:c.2746G>A | ENSP00000347507.3:p.Glu916Lys | |
| NM_000257.3:c.2746G>A | NP_000248.2:p.Glu916Lys | |
| XR_245686.3:n.2852G>A | ||
| XM_017021340.1:c.2746G>A | XP_016876829.1:p.Glu916Lys | |
| NM_000257.4:c.2746G>A MANE Select | NP_000248.2:p.Glu916Lys |