Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827210A>G , CM000667.2:g.148827210A>G | GRCh38 |
| NC_000005.9:g.148206773A>G , CM000667.1:g.148206773A>G | GRCh37 |
| NC_000005.8:g.148186966A>G | NCBI36 |
| NG_016421.1:g.5618A>G | |
| NG_016421.2:g.5618A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.379A>G MANE Select | ENSP00000305372.4:p.Ile127Val | |
| ENST00000305988.5:c.379A>G | ENSP00000305372.4:p.Ile127Val | |
| NM_000024.5:c.379A>G | NP_000015.1:p.Ile127Val | |
| NM_000024.6:c.379A>G MANE Select | NP_000015.2:p.Ile127Val |