Linked Data
ClinVar Variation Id:
15768
ClinVar RCV Id:
RCV000017079
dbSNP Id:
rs34492931
gnomAD v4:
16-176954-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176954A>G , CM000678.2:g.176954A>G | GRCh38 |
| NC_000016.9:g.226953A>G , CM000678.1:g.226953A>G | GRCh37 |
| NC_000016.8:g.166953A>G | NCBI36 |
| NG_000006.1:g.37817A>G | |
| NG_059186.1:g.5304A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.121A>G MANE Select | ENSP00000322421.5:p.Lys41Glu | |
| ENST00000397797.1:c.25A>G | ENSP00000380899.1:p.Lys9Glu | |
| ENST00000472694.1:n.257A>G | ||
| ENST00000487791.1:n.90A>G | ||
| NM_000558.4:c.121A>G | NP_000549.1:p.Lys41Glu | |
| NM_000558.5:c.121A>G MANE Select | NP_000549.1:p.Lys41Glu |