Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75139811C= , CM000664.2:g.75139811C= | GRCh38 |
| NC_000002.11:g.75366937C= , CM000664.1:g.75366937C= | GRCh37 |
| NC_000002.10:g.75220445C= | NCBI36 |
| NG_029522.1:g.64709G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305249.10:c.390-19043G= MANE Select | ENSP00000303522.4:n.390-19043G= | |
| ENST00000305249.9:c.390-19043G= | ENSP00000303522.4:n.390-19043G= | |
| ENST00000409848.3:c.390-19043G= | ENSP00000386448.3:n.390-19043G= | |
| NM_001058.3:c.390-19043G= | NP_001049.1:n.390-19043G= | |
| NM_015727.2:c.390-19043G= | NP_056542.1:n.390-19043G= | |
| NM_001058.4:c.390-19043G= MANE Select | NP_001049.1:n.390-19043G= | |
| NM_015727.3:c.390-19043G= | NP_056542.1:n.390-19043G= |