Linked Data
ClinVar Variation Id:
459535
ClinVar RCV Id:
RCV000557704
dbSNP Id:
rs1170846873
gnomAD v2:
7-83022032-C-A
gnomAD v3:
7-83392716-C-A
gnomAD v4:
7-83392716-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83392716C>A , CM000669.2:g.83392716C>A | GRCh38 |
| NC_000007.13:g.83022032C>A , CM000669.1:g.83022032C>A | GRCh37 |
| NC_000007.12:g.82859968C>A | NCBI36 |
| NG_021242.1:g.261448G>T | |
| NG_021242.2:g.261448G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427262.6:c.1326G>T | ENSP00000405052.1:p.Gln442His | |
| ENST00000642232.1:c.1506G>T | ENSP00000494064.1:p.Gln502His | |
| ENST00000643230.2:c.1506G>T MANE Select | ENSP00000496491.1:p.Gln502His | |
| ENST00000643441.1:n.1491G>T | ||
| ENST00000307792.7:c.1506G>T | ENSP00000303212.3:p.Gln502His | |
| ENST00000427262.5:c.1326G>T | ENSP00000405052.1:p.Gln442His | |
| NM_001178129.1:c.1326G>T | NP_001171600.1:p.Gln442His | |
| NM_012431.2:c.1506G>T | NP_036563.1:p.Gln502His | |
| XM_011516715.1:c.1506G>T | XP_011515017.1:p.Gln502His | |
| NM_012431.3:c.1506G>T MANE Select | NP_036563.1:p.Gln502His | |
| NM_001178129.2:c.1326G>T | NP_001171600.1:p.Gln442His |