Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882185C>G , CM000664.2:g.218882185C>G | GRCh38 |
| NC_000002.11:g.219746907C>G , CM000664.1:g.219746907C>G | GRCh37 |
| NC_000002.10:g.219455151C>G | NCBI36 |
| NG_012179.1:g.6653C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.138C>G MANE Select | ENSP00000258411.3:p.Asp46Glu | |
| ENST00000258411.7:c.138C>G | ENSP00000258411.3:p.Asp46Glu | |
| ENST00000458582.1:c.25C>G | ||
| NM_025216.2:c.138C>G | NP_079492.2:p.Asp46Glu | |
| XM_011511928.1:c.87C>G | XP_011510230.1:p.Asp29Glu | |
| XM_011511929.1:c.42C>G | XP_011510231.1:p.Asp14Glu | |
| XM_011511930.1:c.138C>G | XP_011510232.1:p.Asp46Glu | |
| XM_011511929.2:c.42C>G | XP_011510231.1:p.Asp14Glu | |
| NM_025216.3:c.138C>G MANE Select | NP_079492.2:p.Asp46Glu |