Linked Data
ClinVar Variation Id:
15709
ClinVar RCV Id:
RCV000017003
dbSNP Id:
rs33939620
gnomAD v4:
16-176786-G-A
PubMed:
PMID:5714528
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176786G>A , CM000678.2:g.176786G>A | GRCh38 |
| NC_000016.9:g.226785G>A , CM000678.1:g.226785G>A | GRCh37 |
| NC_000016.8:g.166785G>A | NCBI36 |
| NG_000006.1:g.37649G>A | |
| NG_059186.1:g.5136G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.70G>A MANE Select | ENSP00000322421.5:p.Glu24Lys | |
| ENST00000397797.1:c.-2+24G>A | ENSP00000380899.1:n.-2+24G>A | |
| ENST00000472694.1:n.89G>A | ||
| ENST00000487791.1:n.39G>A | ||
| NM_000558.4:c.70G>A | NP_000549.1:p.Glu24Lys | |
| NM_000558.5:c.70G>A MANE Select | NP_000549.1:p.Glu24Lys |