Linked Data
ClinVar Variation Id:
36101
ClinVar RCV Id:
RCV000029763
dbSNP Id:
rs193922224
ExAC:
15:48829895 A / C
gnomAD v2:
15-48829895-A-C
gnomAD v4:
15-48537698-A-C
PubMed:
PMID:7977366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48537698A>C , CM000677.2:g.48537698A>C | GRCh38 |
| NC_000015.9:g.48829895A>C , CM000677.1:g.48829895A>C | GRCh37 |
| NC_000015.8:g.46617187A>C | NCBI36 |
| NG_008805.2:g.113091T>G , LRG_778:g.113091T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.649T>G | ENSP00000453958.2:p.Trp217Gly | |
| ENST00000674301.2:c.649T>G | ENSP00000501333.2:p.Trp217Gly | |
| ENST00000316623.10:c.649T>G MANE Select | ENSP00000325527.5:p.Trp217Gly | |
| ENST00000316623.9:c.649T>G | ENSP00000325527.5:p.Trp217Gly | |
| ENST00000537463.6:c.636+13T>G | ENSP00000440294.2:n.636+13T>G | |
| NM_000138.4:c.649T>G , LRG_778t1:c.649T>G | NP_000129.3:p.Trp217Gly | |
| NM_000138.5:c.649T>G MANE Select | NP_000129.3:p.Trp217Gly |