Linked Data
ClinVar Variation Id:
640630
ClinVar RCV Id:
RCV000793692
dbSNP Id:
rs1275983760
gnomAD v2:
19-17937571-T-C
gnomAD v4:
19-17826762-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17826762T>C , CM000681.2:g.17826762T>C | GRCh38 |
| NC_000019.9:g.17937571T>C , CM000681.1:g.17937571T>C | GRCh37 |
| NC_000019.8:g.17798571T>C | NCBI36 |
| NG_007273.1:g.26230A>G , LRG_77:g.26230A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1913A>G | ENSP00000513006.1:n.*1913A>G | |
| ENST00000696967.1:n.2533A>G | ||
| ENST00000696968.1:n.589A>G | ||
| ENST00000696969.1:n.2313A>G | ||
| ENST00000458235.7:c.3356A>G MANE Select | ENSP00000391676.1:p.His1119Arg | |
| ENST00000458235.5:c.3356A>G | ENSP00000391676.1:p.His1119Arg | |
| ENST00000527031.5:n.2279-1452A>G | ||
| ENST00000527670.5:c.3356A>G | ENSP00000432511.1:p.His1119Arg | |
| NM_000215.3:c.3356A>G , LRG_77t1:c.3356A>G | NP_000206.2:p.His1119Arg | |
| XM_005259896.2:c.3485A>G | XP_005259953.1:p.His1162Arg | |
| XM_006722745.2:c.3356A>G | XP_006722808.1:p.His1119Arg | |
| XM_005259896.3:c.3485A>G | XP_005259953.1:p.His1162Arg | |
| NM_000215.4:c.3356A>G MANE Select | NP_000206.2:p.His1119Arg |