Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893263T>G , CM000664.2:g.218893263T>G | GRCh38 |
| NC_000002.11:g.219757985T>G , CM000664.1:g.219757985T>G | GRCh37 |
| NC_000002.10:g.219466229T>G | NCBI36 |
| NG_012179.1:g.17731T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1246T>G MANE Select | ENSP00000258411.3:p.Cys416Gly | |
| ENST00000258411.7:c.1246T>G | ENSP00000258411.3:p.Cys416Gly | |
| ENST00000489887.1:n.43T>G | ||
| NM_025216.2:c.1246T>G | NP_079492.2:p.Cys416Gly | |
| XM_011511928.1:c.1195T>G | XP_011510230.1:p.Cys399Gly | |
| XM_011511929.1:c.1150T>G | XP_011510231.1:p.Cys384Gly | |
| XM_011511930.1:c.866T>G | XP_011510232.1:p.Leu289Arg | |
| XM_011511929.2:c.1150T>G | XP_011510231.1:p.Cys384Gly | |
| NM_025216.3:c.1246T>G MANE Select | NP_079492.2:p.Cys416Gly |