Linked Data
ClinVar Variation Id:
263638
dbSNP Id:
rs368737502
ExAC:
15:48808549 G / C
gnomAD v2:
15-48808549-G-C
gnomAD v3:
15-48516352-G-C
gnomAD v4:
15-48516352-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48516352G>C , CM000677.2:g.48516352G>C | GRCh38 |
| NC_000015.9:g.48808549G>C , CM000677.1:g.48808549G>C | GRCh37 |
| NC_000015.8:g.46595841G>C | NCBI36 |
| NG_008805.2:g.134437C>G , LRG_778:g.134437C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1158C>G | ENSP00000453958.2:p.Asn386Lys | |
| ENST00000674301.2:c.1158C>G | ENSP00000501333.2:p.Asn386Lys | |
| ENST00000316623.10:c.1158C>G MANE Select | ENSP00000325527.5:p.Asn386Lys | |
| ENST00000316623.9:c.1158C>G | ENSP00000325527.5:p.Asn386Lys | |
| ENST00000537463.6:c.636+21359C>G | ENSP00000440294.2:n.636+21359C>G | |
| NM_000138.4:c.1158C>G , LRG_778t1:c.1158C>G | NP_000129.3:p.Asn386Lys | |
| NM_000138.5:c.1158C>G MANE Select | NP_000129.3:p.Asn386Lys |