Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218809700C>G , CM000664.2:g.218809700C>G | GRCh38 |
| NC_000002.11:g.219674423C>G , CM000664.1:g.219674423C>G | GRCh37 |
| NC_000002.10:g.219382667C>G | NCBI36 |
| NG_007959.1:g.32952C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.379C>G MANE Select | NP_000775.1:p.Arg127Gly |
| ENST00000258415.9:c.379C>G MANE Select | ENSP00000258415.4:p.Arg127Gly |
| NM_000784.3:c.379C>G | NP_000775.1:p.Arg127Gly |
| ENST00000258415.8:c.379C>G | ENSP00000258415.4:p.Arg127Gly |
| ENST00000411688.1:c.97C>G | ENSP00000392671.1:p.Arg33Gly |
| ENST00000445971.1:c.256-2522C>G | ENSP00000404945.1:n.256-2522C>G |
| ENST00000466602.1:n.265-2522C>G | |
| ENST00000494263.5:n.813C>G | |
| XM_017003488.2:c.27-2522C>G | XP_016858977.1:n.27-2522C>G |