Linked Data
ClinVar Variation Id:
15805
ClinVar RCV Id:
RCV000017146
dbSNP Id:
rs33939421
PubMed:
PMID:8195004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176787A>G , CM000678.2:g.176787A>G | GRCh38 |
| NC_000016.9:g.226786A>G , CM000678.1:g.226786A>G | GRCh37 |
| NC_000016.8:g.166786A>G | NCBI36 |
| NG_000006.1:g.37650A>G | |
| NG_059186.1:g.5137A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.71A>G MANE Select | ENSP00000322421.5:p.Glu24Gly | |
| ENST00000397797.1:c.-2+25A>G | ENSP00000380899.1:n.-2+25A>G | |
| ENST00000472694.1:n.90A>G | ||
| ENST00000487791.1:n.40A>G | ||
| NM_000558.4:c.71A>G | NP_000549.1:p.Glu24Gly | |
| NM_000558.5:c.71A>G MANE Select | NP_000549.1:p.Glu24Gly |