Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046347C>G , CM000667.2:g.136046347C>G | GRCh38 |
| NC_000005.9:g.135382036C>G , CM000667.1:g.135382036C>G | GRCh37 |
| NC_000005.8:g.135409935C>G | NCBI36 |
| NG_012646.1:g.22453C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.311C>G MANE Select | ENSP00000416330.2:p.Ser104Ter | |
| ENST00000442011.6:c.311C>G | ENSP00000416330.2:p.Ser104Ter | |
| ENST00000504185.5:n.468C>G | ||
| ENST00000506699.5:n.376C>G | ||
| ENST00000507018.5:c.228C>G | ||
| ENST00000515433.1:n.603C>G | ||
| NM_000358.2:c.311C>G | NP_000349.1:p.Ser104Ter | |
| NM_000358.3:c.311C>G MANE Select | NP_000349.1:p.Ser104Ter |