Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112207597G>T , CM000674.2:g.112207597G>T | GRCh38 |
| NC_000012.11:g.112645401G>T , CM000674.1:g.112645401G>T | GRCh37 |
| NC_000012.10:g.111129784G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001388303.1:c.8131+277C>A MANE Select | NP_001375232.1:n.8131+277C>A |
| ENST00000682272.1:c.8131+277C>A MANE Select | ENSP00000507687.1:n.8131+277C>A |
| NM_001109662.3:c.7729+277C>A | NP_001103132.3:n.7729+277C>A |
| NM_001109662.4:c.8161+277C>A | NP_001103132.4:n.8161+277C>A |
| ENST00000377560.9:c.8125+277C>A | ENSP00000366783.7:n.8125+277C>A |
| ENST00000550722.5:c.7729+277C>A | ENSP00000449784.2:n.7729+277C>A |
| ENST00000550968.5:n.1365+277C>A | |
| ENST00000651701.1:c.1157+277C>A |