Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423119G>C , CM000669.2:g.94423119G>C | GRCh38 |
| NC_000007.13:g.94052431G>C , CM000669.1:g.94052431G>C | GRCh37 |
| NC_000007.12:g.93890367G>C | NCBI36 |
| NG_007405.1:g.33559G>C , LRG_2:g.33559G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2565+1G>C MANE Select | ENSP00000297268.6:n.2565+1G>C | |
| ENST00000297268.10:c.2565+1G>C | ENSP00000297268.6:n.2565+1G>C | |
| ENST00000481570.5:n.649G>C | ||
| ENST00000620463.1:c.2559+1G>C | ENSP00000477719.1:n.2559+1G>C | |
| NM_000089.3:c.2565+1G>C , LRG_2t1:c.2565+1G>C | NP_000080.2:n.2565+1G>C | |
| NM_000089.4:c.2565+1G>C MANE Select | NP_000080.2:n.2565+1G>C |