Linked Data
ClinVar Variation Id:
239920
ClinVar RCV Id:
RCV000228351
dbSNP Id:
rs878854700
gnomAD v3:
19-33302163-G-C
gnomAD v4:
19-33302163-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302163G>C , CM000681.2:g.33302163G>C | GRCh38 |
| NC_000019.9:g.33793069G>C , CM000681.1:g.33793069G>C | GRCh37 |
| NC_000019.8:g.38484909G>C | NCBI36 |
| NG_012022.1:g.5362C>G , LRG_456:g.5362C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.252C>G MANE Select | ENSP00000427514.1:p.His84Gln | |
| ENST00000498907.2:c.252C>G | ENSP00000427514.1:p.His84Gln | |
| NM_001285829.1:c.-106C>G | NP_001272758.1:n.-106C>G | |
| NM_001287424.1:c.357C>G | NP_001274353.1:p.His119Gln | |
| NM_001287435.1:c.210C>G | NP_001274364.1:p.His70Gln | |
| NM_004364.4:c.252C>G | NP_004355.2:p.His84Gln | |
| NM_001287424.2:c.357C>G | NP_001274353.1:p.His119Gln | |
| NM_004364.5:c.252C>G MANE Select | NP_004355.2:p.His84Gln | |
| NM_001285829.2:c.-106C>G | NP_001272758.1:n.-106C>G | |
| NM_001287435.2:c.210C>G | NP_001274364.1:p.His70Gln |