Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085290G= , CM000666.2:g.186085290G= | GRCh38 |
| NC_000004.11:g.187006444G= , CM000666.1:g.187006444G= | GRCh37 |
| NC_000004.10:g.187243438G= | NCBI36 |
| NG_007278.1:g.21136G= , LRG_117:g.21136G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2684G= | ENSP00000513675.1:n.*2684G= | |
| ENST00000698353.1:n.3007G= | ||
| ENST00000698354.1:c.*417G= | ENSP00000513676.1:n.*417G= | |
| ENST00000296795.8:c.*417G= MANE Select | ENSP00000296795.3:n.*417G= | |
| ENST00000296795.7:c.*417G= | ENSP00000296795.2:n.*417G= | |
| NM_003265.3:c.*417G= MANE Select | NP_003256.1:n.*417G= |