Linked Data
ClinVar Variation Id:
2211692
ClinVar RCV Id:
RCV002669111
dbSNP Id:
rs1846061863
gnomAD v3:
10-113884301-A-C
gnomAD v4:
10-113884301-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113884301A>C , CM000672.2:g.113884301A>C | GRCh38 |
| NC_000010.10:g.115644060A>C , CM000672.1:g.115644060A>C | GRCh37 |
| NC_000010.9:g.115634050A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369301.3:c.960A>C MANE Select | ENSP00000358307.3:p.Gln320His | |
| NM_198514.3:c.960A>C | NP_940916.2:p.Gln320His | |
| XM_011539769.1:c.960A>C | XP_011538071.1:p.Gln320His | |
| XM_011539769.3:c.960A>C | XP_011538071.1:p.Gln320His | |
| NM_198514.4:c.960A>C MANE Select | NP_940916.2:p.Gln320His |