Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423206T= , CM000669.2:g.94423206T= | GRCh38 |
| NC_000007.13:g.94052518T= , CM000669.1:g.94052518T= | GRCh37 |
| NC_000007.12:g.93890454T= | NCBI36 |
| NG_007405.1:g.33646T= , LRG_2:g.33646T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2565+88T= MANE Select | ENSP00000297268.6:n.2565+88T= | |
| ENST00000297268.10:c.2565+88T= | ENSP00000297268.6:n.2565+88T= | |
| ENST00000481570.5:n.736T= | ||
| ENST00000620463.1:c.2559+88T= | ENSP00000477719.1:n.2559+88T= | |
| NM_000089.3:c.2565+88T= , LRG_2t1:c.2565+88T= | NP_000080.2:n.2565+88T= | |
| NM_000089.4:c.2565+88T= MANE Select | NP_000080.2:n.2565+88T= |