Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098745A>G , CM000664.2:g.189098745A>G | GRCh38 |
| NC_000002.11:g.189963471A>G , CM000664.1:g.189963471A>G | GRCh37 |
| NC_000002.10:g.189671716A>G | NCBI36 |
| NG_011799.1:g.86135T>C | |
| NG_011799.2:g.86135T>C | |
| NG_011799.3:g.131557T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.384T>C MANE Select | ENSP00000364000.3:p.Arg128= | |
| ENST00000649966.1:c.246T>C | ENSP00000496785.1:p.Arg82= | |
| ENST00000374866.7:c.384T>C | ENSP00000364000.3:p.Arg128= | |
| ENST00000618828.1:c.-247T>C | ENSP00000482184.1:n.-247T>C | |
| NM_000393.3:c.384T>C | NP_000384.2:p.Arg128= | |
| XM_011510573.1:c.246T>C | XP_011508875.1:p.Arg82= | |
| NM_000393.4:c.384T>C | NP_000384.2:p.Arg128= | |
| XM_011510573.3:c.246T>C | XP_011508875.1:p.Arg82= | |
| NM_000393.5:c.384T>C MANE Select | NP_000384.2:p.Arg128= |