Linked Data
ClinVar Variation Id:
15210
ClinVar RCV Id:
RCV000016397
dbSNP Id:
rs36006214
gnomAD v4:
11-5226968-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226968C>G , CM000673.2:g.5226968C>G | GRCh38 |
| NC_000011.9:g.5248198C>G , CM000673.1:g.5248198C>G | GRCh37 |
| NC_000011.8:g.5204774C>G | NCBI36 |
| NG_000007.3:g.70648G>C | |
| NG_059281.1:g.5104G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.54G>C | ENSP00000494175.1:p.Lys18Asn | |
| ENST00000335295.4:c.54G>C MANE Select | ENSP00000333994.3:p.Lys18Asn | |
| ENST00000380315.2:c.54G>C | ENSP00000369671.2:p.Lys18Asn | |
| ENST00000485743.1:n.105G>C | ||
| ENST00000633227.1:c.54G>C | ENSP00000488004.1:p.Lys18Asn | |
| NM_000518.4:c.54G>C | NP_000509.1:p.Lys18Asn | |
| NM_000518.5:c.54G>C MANE Select | NP_000509.1:p.Lys18Asn |