Linked Data
ClinVar Variation Id:
102715
dbSNP Id:
rs199475652
gnomAD v2:
12-103249110-A-T
gnomAD v3:
12-102855332-A-T
gnomAD v4:
12-102855332-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855332A>T , CM000674.2:g.102855332A>T | GRCh38 |
| NC_000012.11:g.103249110A>T , CM000674.1:g.103249110A>T | GRCh37 |
| NC_000012.10:g.101773240A>T | NCBI36 |
| NG_008690.1:g.67271T>A | |
| NG_008690.2:g.108079T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.510T>A MANE Select | ENSP00000448059.1:p.His170Gln | |
| ENST00000307000.7:c.495T>A | ENSP00000303500.2:p.His165Gln | |
| ENST00000549111.5:n.606T>A | ||
| ENST00000551988.5:n.531T>A | ||
| ENST00000553106.5:c.510T>A | ENSP00000448059.1:p.His170Gln | |
| NM_000277.1:c.510T>A | NP_000268.1:p.His170Gln | |
| XM_011538422.1:c.510T>A | XP_011536724.1:p.His170Gln | |
| NM_000277.2:c.510T>A | NP_000268.1:p.His170Gln | |
| NM_001354304.1:c.510T>A | NP_001341233.1:p.His170Gln | |
| XM_017019370.2:c.510T>A | XP_016874859.1:p.His170Gln | |
| NM_000277.3:c.510T>A MANE Select | NP_000268.1:p.His170Gln | |
| NM_001354304.2:c.510T>A | NP_001341233.1:p.His170Gln |