Linked Data
dbSNP Id:
rs759911966
ExAC:
1:197060122 T / C
gnomAD v2:
1-197060122-T-C
gnomAD v3:
1-197090992-T-C
gnomAD v4:
1-197090992-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090992T>C , CM000663.2:g.197090992T>C | GRCh38 |
| NC_000001.10:g.197060122T>C , CM000663.1:g.197060122T>C | GRCh37 |
| NC_000001.9:g.195326745T>C | NCBI36 |
| NG_015867.1:g.60703A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2781A>G | ||
| ENST00000367409.9:c.9494A>G MANE Select | ENSP00000356379.4:p.His3165Arg | |
| ENST00000680265.1:c.9716A>G | ENSP00000505384.1:p.His3239Arg | |
| ENST00000680710.1:c.9470A>G | ENSP00000506676.1:p.His3157Arg | |
| ENST00000294732.11:c.4739A>G | ENSP00000294732.7:p.His1580Arg | |
| ENST00000367408.5:c.2489A>G | ENSP00000356378.1:p.His830Arg | |
| ENST00000367409.8:c.9494A>G | ENSP00000356379.4:p.His3165Arg | |
| ENST00000612785.1:c.3452A>G | ENSP00000479244.1:p.His1151Arg | |
| NM_001206846.1:c.4739A>G | NP_001193775.1:p.His1580Arg | |
| NM_018136.4:c.9494A>G | NP_060606.3:p.His3165Arg | |
| NM_018136.5:c.9494A>G MANE Select | NP_060606.3:p.His3165Arg | |
| NM_001206846.2:c.4739A>G | NP_001193775.1:p.His1580Arg |