Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210210114G= , CM000664.2:g.210210114G= | GRCh38 |
| NC_000002.11:g.211074838G= , CM000664.1:g.211074838G= | GRCh37 |
| NC_000002.10:g.210783083G= | NCBI36 |
| NG_008002.1:g.20378C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233710.4:c.603+82C= MANE Select | ENSP00000233710.3:n.603+82C= | |
| ENST00000652584.1:n.831+82C= | ||
| ENST00000233710.3:c.603+82C= | ENSP00000233710.3:n.603+82C= | |
| ENST00000482502.1:n.522C= | ||
| NM_001608.3:c.603+82C= | NP_001599.1:n.603+82C= | |
| XM_005246517.3:c.540+82C= | XP_005246574.1:n.540+82C= | |
| XM_005246517.4:c.540+82C= | XP_005246574.1:n.540+82C= | |
| XM_017003955.1:c.180+82C= | XP_016859444.1:n.180+82C= | |
| NM_001608.4:c.603+82C= MANE Select | NP_001599.1:n.603+82C= |