Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423120T>A , CM000669.2:g.94423120T>A | GRCh38 |
| NC_000007.13:g.94052432T>A , CM000669.1:g.94052432T>A | GRCh37 |
| NC_000007.12:g.93890368T>A | NCBI36 |
| NG_007405.1:g.33560T>A , LRG_2:g.33560T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2565+2T>A MANE Select | NP_000080.2:n.2565+2T>A |
| ENST00000297268.11:c.2565+2T>A MANE Select | ENSP00000297268.6:n.2565+2T>A |
| NM_000089.3:c.2565+2T>A , LRG_2t1:c.2565+2T>A | NP_000080.2:n.2565+2T>A |
| ENST00000297268.10:c.2565+2T>A | ENSP00000297268.6:n.2565+2T>A |
| ENST00000481570.5:n.650T>A | |
| ENST00000620463.1:c.2559+2T>A | ENSP00000477719.1:n.2559+2T>A |