Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085238G= , CM000666.2:g.186085238G= | GRCh38 |
| NC_000004.11:g.187006392G= , CM000666.1:g.187006392G= | GRCh37 |
| NC_000004.10:g.187243386G= | NCBI36 |
| NG_007278.1:g.21084G= , LRG_117:g.21084G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2632G= | ENSP00000513675.1:n.*2632G= | |
| ENST00000698353.1:n.2955G= | ||
| ENST00000698354.1:c.*365G= | ENSP00000513676.1:n.*365G= | |
| ENST00000296795.8:c.*365G= MANE Select | ENSP00000296795.3:n.*365G= | |
| ENST00000296795.7:c.*365G= | ENSP00000296795.2:n.*365G= | |
| NM_003265.3:c.*365G= MANE Select | NP_003256.1:n.*365G= |