Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206949671C>A , CM000664.2:g.206949671C>A | GRCh38 |
| NC_000002.11:g.207814395C>A , CM000664.1:g.207814395C>A | GRCh37 |
| NC_000002.10:g.207522640C>A | NCBI36 |
| NG_028078.1:g.15118C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272852.4:c.123C>A MANE Select | ENSP00000272852.2:p.Ser41Arg | |
| ENST00000272852.3:c.123C>A | ENSP00000272852.2:p.Ser41Arg | |
| NM_173077.2:c.123C>A | NP_775100.1:p.Ser41Arg | |
| XM_011510627.1:c.123C>A | XP_011508929.1:p.Ser41Arg | |
| XM_017003372.2:c.123C>A | XP_016858861.1:p.Ser41Arg | |
| NM_173077.3:c.123C>A MANE Select | NP_775100.1:p.Ser41Arg |