Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88736617C>T , CM000664.2:g.88736617C>T | GRCh38 |
| NC_000002.11:g.89036134C>T , CM000664.1:g.89036134C>T | GRCh37 |
| NC_000002.10:g.88817249C>T | NCBI36 |
| NG_016710.1:g.49959C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144563.3:c.679C>T MANE Select | NP_653164.2:p.Arg227Ter |
| ENST00000283646.5:c.679C>T MANE Select | ENSP00000283646.3:p.Arg227Ter |
| NM_144563.2:c.679C>T | NP_653164.2:p.Arg227Ter |
| ENST00000283646.4:c.679C>T | ENSP00000283646.3:p.Arg227Ter |