Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058849T= , CM000664.2:g.189058849T= | GRCh38 |
| NC_000002.11:g.189923575T= , CM000664.1:g.189923575T= | GRCh37 |
| NC_000002.10:g.189631820T= | NCBI36 |
| NG_011799.1:g.126031A= | |
| NG_011799.2:g.126031A= | |
| NG_011799.3:g.171453A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2130A= MANE Select | ENSP00000364000.3:p.Arg710= | |
| ENST00000374866.7:c.2130A= | ENSP00000364000.3:p.Arg710= | |
| ENST00000470524.2:n.236A= | ||
| ENST00000618828.1:c.969A= | ENSP00000482184.1:p.Arg323= | |
| NM_000393.3:c.2130A= | NP_000384.2:p.Arg710= | |
| XM_011510573.1:c.1992A= | XP_011508875.1:p.Arg664= | |
| NM_000393.4:c.2130A= | NP_000384.2:p.Arg710= | |
| XM_011510573.3:c.1992A= | XP_011508875.1:p.Arg664= | |
| NM_000393.5:c.2130A= MANE Select | NP_000384.2:p.Arg710= |