Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63606224G>T , CM000679.2:g.63606224G>T | GRCh38 |
| NC_000017.10:g.61683584G>T , CM000679.1:g.61683584G>T | GRCh37 |
| NC_000017.9:g.59037316G>T | NCBI36 |
| NG_016979.1:g.10354G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682060.1:n.150-89G>T | ||
| ENST00000684587.1:c.385-89G>T | ENSP00000507435.1:n.385-89G>T | |
| ENST00000690765.1:c.*214-89G>T | ENSP00000510085.1:n.*214-89G>T | |
| ENST00000258975.7:c.388-89G>T MANE Select | ENSP00000258975.6:n.388-89G>T | |
| ENST00000258975.6:c.388-89G>T | ENSP00000258975.6:n.388-89G>T | |
| ENST00000581120.1:n.590-89G>T | ||
| NM_016360.3:c.388-89G>T | NP_057444.2:n.388-89G>T | |
| NM_016360.4:c.388-89G>T MANE Select | NP_057444.2:n.388-89G>T |