Linked Data
ClinVar Variation Id:
14773
ClinVar RCV Id:
RCV000015896
dbSNP Id:
rs121912450
PubMed:
PMID:8069312
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659833G>A , CM000683.2:g.31659833G>A | GRCh38 |
| NC_000021.8:g.33032146G>A , CM000683.1:g.33032146G>A | GRCh37 |
| NC_000021.7:g.31954017G>A | NCBI36 |
| NG_008689.1:g.5212G>A , LRG_652:g.5212G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270142.11:c.64G>A MANE Select | ENSP00000270142.7:p.Glu22Lys | |
| ENST00000270142.10:c.64G>A | ENSP00000270142.6:p.Glu22Lys | |
| ENST00000389995.4:c.15+49G>A | ENSP00000374645.4:n.15+49G>A | |
| ENST00000470944.1:n.125G>A | ||
| ENST00000476106.5:n.141G>A | ||
| NM_000454.4:c.64G>A , LRG_652t1:c.64G>A | NP_000445.1:p.Glu22Lys | |
| NM_000454.5:c.64G>A MANE Select | NP_000445.1:p.Glu22Lys |