Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62909330C= , CM000673.2:g.62909330C= | GRCh38 |
| NC_000011.9:g.62676802C= , CM000673.1:g.62676802C= | GRCh37 |
| NC_000011.8:g.62433378C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000738.3:c.*388G= MANE Select | NP_000729.2:n.*388G= |
| ENST00000306960.4:c.*388G= MANE Select | ENSP00000306490.3:n.*388G= |
| NM_000738.2:c.*388G= | NP_000729.2:n.*388G= |
| ENST00000306960.3:c.*388G= | ENSP00000306490.3:n.*388G= |
| XM_011544742.1:c.*388G= | XP_011543044.1:n.*388G= |
| XM_011544742.2:c.*388G= | XP_011543044.1:n.*388G= |