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