Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404686C>A , CM000669.2:g.94404686C>A | GRCh38 |
| NC_000007.13:g.94033998C>A , CM000669.1:g.94033998C>A | GRCh37 |
| NC_000007.12:g.93871934C>A | NCBI36 |
| NG_007405.1:g.15126C>A , LRG_2:g.15126C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.325-7C>A MANE Select | ENSP00000297268.6:n.325-7C>A | |
| ENST00000297268.10:c.325-7C>A | ENSP00000297268.6:n.325-7C>A | |
| ENST00000620463.1:c.319-7C>A | ENSP00000477719.1:n.319-7C>A | |
| NM_000089.3:c.325-7C>A , LRG_2t1:c.325-7C>A | NP_000080.2:n.325-7C>A | |
| NM_000089.4:c.325-7C>A MANE Select | NP_000080.2:n.325-7C>A |