Linked Data
ClinVar Variation Id:
1460083
ClinVar RCV Id:
RCV001951415
dbSNP Id:
rs751977644
gnomAD v4:
12-102855239-A-C
ERepo:
CA16020826/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855239A>C , CM000674.2:g.102855239A>C | GRCh38 |
| NC_000012.11:g.103249017A>C , CM000674.1:g.103249017A>C | GRCh37 |
| NC_000012.10:g.101773147A>C | NCBI36 |
| NG_008690.1:g.67364T>G | |
| NG_008690.2:g.108172T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.603T>G MANE Select | ENSP00000448059.1:p.His201Gln | |
| ENST00000307000.7:c.588T>G | ENSP00000303500.2:p.His196Gln | |
| ENST00000549111.5:n.699T>G | ||
| ENST00000553106.5:c.603T>G | ENSP00000448059.1:p.His201Gln | |
| NM_000277.1:c.603T>G | NP_000268.1:p.His201Gln | |
| XM_011538422.1:c.603T>G | XP_011536724.1:p.His201Gln | |
| NM_000277.2:c.603T>G | NP_000268.1:p.His201Gln | |
| NM_001354304.1:c.603T>G | NP_001341233.1:p.His201Gln | |
| XM_017019370.2:c.603T>G | XP_016874859.1:p.His201Gln | |
| NM_000277.3:c.603T>G MANE Select | NP_000268.1:p.His201Gln | |
| NM_001354304.2:c.603T>G | NP_001341233.1:p.His201Gln |