Linked Data
ClinVar Variation Id:
3120173
ClinVar RCV Id:
RCV004413066
dbSNP Id:
rs368340109
ExAC:
8:105509573 T / G
gnomAD v2:
8-105509573-T-G
gnomAD v3:
8-104497345-T-G
gnomAD v4:
8-104497345-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104497345T>G , CM000670.2:g.104497345T>G | GRCh38 |
| NC_000008.10:g.105509573T>G , CM000670.1:g.105509573T>G | GRCh37 |
| NC_000008.9:g.105578749T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276654.10:c.1207A>C MANE Select | ENSP00000276654.5:p.Asn403His | |
| ENST00000276654.9:c.1207A>C | ENSP00000276654.5:p.Asn403His | |
| ENST00000424843.6:c.1150A>C | ENSP00000399148.2:p.Asn384His | |
| ENST00000523007.1:c.-27A>C | ENSP00000429305.1:n.-27A>C | |
| NM_001135703.2:c.1150A>C | NP_001129175.1:p.Asn384His | |
| NM_013437.4:c.1207A>C | NP_038465.1:p.Asn403His | |
| NM_001135703.3:c.1150A>C | NP_001129175.1:p.Asn384His | |
| NM_013437.5:c.1207A>C MANE Select | NP_038465.1:p.Asn403His |