Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587328A>G , CM000681.2:g.48587328A>G | GRCh38 |
| NC_000019.9:g.49090585A>G , CM000681.1:g.49090585A>G | GRCh37 |
| NC_000019.8:g.53782397A>G | NCBI36 |
| NG_029063.1:g.40157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.314A>G MANE Select | ENSP00000201586.2:p.Glu105Gly | |
| ENST00000201586.6:c.314A>G | ENSP00000201586.1:p.Glu105Gly | |
| ENST00000323090.4:c.269A>G | ENSP00000312880.3:p.Glu90Gly | |
| NM_004605.2:c.269A>G | NP_004596.2:p.Glu90Gly | |
| NM_177973.1:c.314A>G | NP_814444.1:p.Glu105Gly | |
| NM_177973.2:c.314A>G MANE Select | NP_814444.1:p.Glu105Gly |