Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085814A= , CM000666.2:g.186085814A= | GRCh38 |
| NC_000004.11:g.187006968A= , CM000666.1:g.187006968A= | GRCh37 |
| NC_000004.10:g.187243962A= | NCBI36 |
| NG_007278.1:g.21660A= , LRG_117:g.21660A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3208A= | ENSP00000513675.1:n.*3208A= | |
| ENST00000698353.1:n.3531A= | ||
| ENST00000698354.1:c.*941A= | ENSP00000513676.1:n.*941A= | |
| ENST00000296795.8:c.*941A= MANE Select | ENSP00000296795.3:n.*941A= | |
| ENST00000296795.7:c.*941A= | ENSP00000296795.2:n.*941A= | |
| NM_003265.3:c.*941A= MANE Select | NP_003256.1:n.*941A= |