Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110307907G>C , CM000675.2:g.110307907G>C | GRCh38 |
| NC_000013.10:g.110960254G>C , CM000675.1:g.110960254G>C | GRCh37 |
| NC_000013.9:g.109758255G>C | NCBI36 |
| NG_011544.2:g.4243C>G | |
| NG_032137.1:g.5624G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.4G>C MANE Select | ENSP00000353654.5:p.Gly2Arg | |
| ENST00000400163.7:c.4G>C | ENSP00000383027.3:p.Gly2Arg | |
| ENST00000649101.1:c.4G>C | ENSP00000497869.1:p.Gly2Arg | |
| ENST00000650540.1:c.4G>C | ENSP00000497878.1:p.Gly2Arg | |
| ENST00000360467.5:c.4G>C | ENSP00000353654.5:p.Gly2Arg | |
| ENST00000400163.6:c.4G>C | ENSP00000383027.2:p.Gly2Arg | |
| ENST00000480771.5:n.310G>C | ||
| NM_001846.2:c.4G>C | NP_001837.2:p.Gly2Arg | |
| NM_001846.3:c.4G>C | NP_001837.2:p.Gly2Arg | |
| NM_001846.4:c.4G>C MANE Select | NP_001837.2:p.Gly2Arg |