Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218164533G>T , CM000664.2:g.218164533G>T | GRCh38 |
| NC_000002.11:g.219029256G>T , CM000664.1:g.219029256G>T | GRCh37 |
| NC_000002.10:g.218737501G>T | NCBI36 |
| NG_011814.1:g.7461C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000634.3:c.679C>A MANE Select | NP_000625.1:p.Arg227Ser |
| ENST00000295683.3:c.679C>A MANE Select | ENSP00000295683.2:p.Arg227Ser |
| NM_000634.2:c.679C>A | NP_000625.1:p.Arg227Ser |
| ENST00000295683.2:c.679C>A | ENSP00000295683.2:p.Arg227Ser |