Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431704C>T , CM000663.2:g.229431704C>T | GRCh38 |
| NC_000001.10:g.229567451C>T , CM000663.1:g.229567451C>T | GRCh37 |
| NC_000001.9:g.227634074C>T | NCBI36 |
| NG_006672.1:g.7393G>A , LRG_429:g.7393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.990+17G>A | ENSP00000355644.4:n.990+17G>A | |
| ENST00000684723.1:c.855+17G>A | ENSP00000508084.1:n.855+17G>A | |
| ENST00000366683.3:c.621+17G>A | ENSP00000355644.3:n.621+17G>A | |
| ENST00000366684.7:c.990+17G>A MANE Select | ENSP00000355645.3:n.990+17G>A | |
| NM_001100.3:c.990+17G>A , LRG_429t1:c.990+17G>A | NP_001091.1:n.990+17G>A | |
| NM_001100.4:c.990+17G>A MANE Select | NP_001091.1:n.990+17G>A |