Linked Data
ClinVar Variation Id:
179244
ClinVar RCV Id:
RCV000156031
dbSNP Id:
rs397515793
gnomAD v4:
15-48487075-C-G
PubMed:
PMID:19293843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487075C>G , CM000677.2:g.48487075C>G | GRCh38 |
| NC_000015.9:g.48779272C>G , CM000677.1:g.48779272C>G | GRCh37 |
| NC_000015.8:g.46566564C>G | NCBI36 |
| NG_008805.2:g.163714G>C , LRG_778:g.163714G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3589G>C | ENSP00000453958.2:p.Asp1197His | |
| ENST00000674301.2:c.3589G>C | ENSP00000501333.2:p.Asp1197His | |
| ENST00000684448.1:n.2263G>C | ||
| ENST00000316623.10:c.3589G>C MANE Select | ENSP00000325527.5:p.Asp1197His | |
| ENST00000316623.9:c.3589G>C | ENSP00000325527.5:p.Asp1197His | |
| ENST00000537463.6:c.637-12425G>C | ENSP00000440294.2:n.637-12425G>C | |
| NM_000138.4:c.3589G>C , LRG_778t1:c.3589G>C | NP_000129.3:p.Asp1197His | |
| NM_000138.5:c.3589G>C MANE Select | NP_000129.3:p.Asp1197His |