Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401690C>A , CM000669.2:g.94401690C>A | GRCh38 |
| NC_000007.13:g.94031002C>A , CM000669.1:g.94031002C>A | GRCh37 |
| NC_000007.12:g.93868938C>A | NCBI36 |
| NG_007405.1:g.12130C>A , LRG_2:g.12130C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+70C>A MANE Select | ENSP00000297268.6:n.279+70C>A | |
| ENST00000297268.10:c.279+70C>A | ENSP00000297268.6:n.279+70C>A | |
| ENST00000620463.1:c.273+70C>A | ENSP00000477719.1:n.273+70C>A | |
| NM_000089.3:c.279+70C>A , LRG_2t1:c.279+70C>A | NP_000080.2:n.279+70C>A | |
| NM_000089.4:c.279+70C>A MANE Select | NP_000080.2:n.279+70C>A |