Linked Data
ClinVar Variation Id:
944625
ClinVar RCV Id:
RCV001215065
dbSNP Id:
rs199475652
ExAC:
12:103249110 A / C
gnomAD v2:
12-103249110-A-C
gnomAD v3:
12-102855332-A-C
gnomAD v4:
12-102855332-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855332A>C , CM000674.2:g.102855332A>C | GRCh38 |
| NC_000012.11:g.103249110A>C , CM000674.1:g.103249110A>C | GRCh37 |
| NC_000012.10:g.101773240A>C | NCBI36 |
| NG_008690.1:g.67271T>G | |
| NG_008690.2:g.108079T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.510T>G MANE Select | ENSP00000448059.1:p.His170Gln | |
| ENST00000307000.7:c.495T>G | ENSP00000303500.2:p.His165Gln | |
| ENST00000549111.5:n.606T>G | ||
| ENST00000551988.5:n.531T>G | ||
| ENST00000553106.5:c.510T>G | ENSP00000448059.1:p.His170Gln | |
| NM_000277.1:c.510T>G | NP_000268.1:p.His170Gln | |
| XM_011538422.1:c.510T>G | XP_011536724.1:p.His170Gln | |
| NM_000277.2:c.510T>G | NP_000268.1:p.His170Gln | |
| NM_001354304.1:c.510T>G | NP_001341233.1:p.His170Gln | |
| XM_017019370.2:c.510T>G | XP_016874859.1:p.His170Gln | |
| NM_000277.3:c.510T>G MANE Select | NP_000268.1:p.His170Gln | |
| NM_001354304.2:c.510T>G | NP_001341233.1:p.His170Gln |