Linked Data
ClinVar Variation Id:
1445004
dbSNP Id:
rs1194458561
gnomAD v2:
1-68895481-T-C
gnomAD v4:
1-68429798-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429798T>C , CM000663.2:g.68429798T>C | GRCh38 |
| NC_000001.10:g.68895481T>C , CM000663.1:g.68895481T>C | GRCh37 |
| NC_000001.9:g.68668069T>C | NCBI36 |
| NG_008472.1:g.25162A>G | |
| NG_008472.2:g.25162A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1580A>G MANE Select | ENSP00000262340.5:p.His527Arg | |
| ENST00000262340.5:c.1580A>G | ENSP00000262340.5:p.His527Arg | |
| NM_000329.2:c.1580A>G | NP_000320.1:p.His527Arg | |
| XM_017002027.1:c.1304A>G | XP_016857516.1:p.His435Arg | |
| NM_000329.3:c.1580A>G MANE Select | NP_000320.1:p.His527Arg |