Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401763A>T , CM000669.2:g.94401763A>T | GRCh38 |
| NC_000007.13:g.94031075A>T , CM000669.1:g.94031075A>T | GRCh37 |
| NC_000007.12:g.93869011A>T | NCBI36 |
| NG_007405.1:g.12203A>T , LRG_2:g.12203A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+143A>T MANE Select | ENSP00000297268.6:n.279+143A>T | |
| ENST00000297268.10:c.279+143A>T | ENSP00000297268.6:n.279+143A>T | |
| ENST00000620463.1:c.273+143A>T | ENSP00000477719.1:n.273+143A>T | |
| NM_000089.3:c.279+143A>T , LRG_2t1:c.279+143A>T | NP_000080.2:n.279+143A>T | |
| NM_000089.4:c.279+143A>T MANE Select | NP_000080.2:n.279+143A>T |