Linked Data
ClinVar Variation Id:
1500276
ClinVar RCV Id:
RCV002015516
dbSNP Id:
rs1454468614
gnomAD v4:
4-54267610-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54267610T>G , CM000666.2:g.54267610T>G | GRCh38 |
| NC_000004.11:g.55133777T>G , CM000666.1:g.55133777T>G | GRCh37 |
| NC_000004.10:g.54828534T>G | NCBI36 |
| NG_009250.1:g.43514T>G , LRG_309:g.43514T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.990T>G MANE Select | ENSP00000257290.5:p.His330Gln | |
| ENST00000257290.9:c.990T>G | ENSP00000257290.5:p.His330Gln | |
| ENST00000507166.5:c.1018-7315T>G | ENSP00000423325.1:n.1018-7315T>G | |
| ENST00000509092.5:n.808T>G | ||
| ENST00000509490.5:c.990T>G | ENSP00000424218.1:p.His330Gln | |
| NM_006206.4:c.990T>G , LRG_309t1:c.990T>G | NP_006197.1:p.His330Gln | |
| XM_005265743.1:c.990T>G | XP_005265800.1:p.His330Gln | |
| XM_006714039.2:c.1065T>G | XP_006714102.1:p.His355Gln | |
| XM_006714041.2:c.1065T>G | XP_006714104.1:p.His355Gln | |
| XM_011534385.1:c.990T>G | XP_011532687.1:p.His330Gln | |
| XM_011534386.1:c.990T>G | XP_011532688.1:p.His330Gln | |
| NM_001347827.1:c.990T>G | NP_001334756.1:p.His330Gln | |
| NM_001347828.1:c.1065T>G | NP_001334757.1:p.His355Gln | |
| NM_001347829.1:c.990T>G | NP_001334758.1:p.His330Gln | |
| NM_001347830.1:c.1029T>G | NP_001334759.1:p.His343Gln | |
| NM_006206.5:c.990T>G | NP_006197.1:p.His330Gln | |
| XM_006714041.3:c.1065T>G | XP_006714104.1:p.His355Gln | |
| XM_017008281.1:c.1029T>G | XP_016863770.1:p.His343Gln | |
| NM_006206.6:c.990T>G MANE Select | NP_006197.1:p.His330Gln | |
| NM_001347827.2:c.990T>G | NP_001334756.1:p.His330Gln | |
| NM_001347828.2:c.1065T>G | NP_001334757.1:p.His355Gln | |
| NM_001347829.2:c.990T>G | NP_001334758.1:p.His330Gln | |
| NM_001347830.2:c.1029T>G | NP_001334759.1:p.His343Gln |