Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098751G>T , CM000664.2:g.189098751G>T | GRCh38 |
| NC_000002.11:g.189963477G>T , CM000664.1:g.189963477G>T | GRCh37 |
| NC_000002.10:g.189671722G>T | NCBI36 |
| NG_011799.1:g.86129C>A | |
| NG_011799.2:g.86129C>A | |
| NG_011799.3:g.131551C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.378C>A MANE Select | ENSP00000364000.3:p.Gly126= | |
| ENST00000649966.1:c.240C>A | ENSP00000496785.1:p.Gly80= | |
| ENST00000374866.7:c.378C>A | ENSP00000364000.3:p.Gly126= | |
| ENST00000618828.1:c.-253C>A | ENSP00000482184.1:n.-253C>A | |
| NM_000393.3:c.378C>A | NP_000384.2:p.Gly126= | |
| XM_011510573.1:c.240C>A | XP_011508875.1:p.Gly80= | |
| NM_000393.4:c.378C>A | NP_000384.2:p.Gly126= | |
| XM_011510573.3:c.240C>A | XP_011508875.1:p.Gly80= | |
| NM_000393.5:c.378C>A MANE Select | NP_000384.2:p.Gly126= |