Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280494G>T , CM000679.2:g.58280494G>T | GRCh38 |
| NC_000017.10:g.56357855G>T , CM000679.1:g.56357855G>T | GRCh37 |
| NC_000017.9:g.53712854G>T | NCBI36 |
| NG_009629.1:g.5442C>A , LRG_84:g.5442C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225275.4:c.155-35C>A MANE Select | ENSP00000225275.3:n.155-35C>A | |
| ENST00000225275.3:c.155-35C>A | ENSP00000225275.3:n.155-35C>A | |
| ENST00000580005.1:n.84-35C>A | ||
| NM_000250.1:c.155-35C>A , LRG_84t1:c.155-35C>A | NP_000241.1:n.155-35C>A | |
| XM_011524821.1:c.341-35C>A | XP_011523123.1:n.341-35C>A | |
| XM_011524822.1:c.-38+111C>A | XP_011523124.1:n.-38+111C>A | |
| XM_011524823.1:c.341-35C>A | XP_011523125.1:n.341-35C>A | |
| NM_000250.2:c.155-35C>A MANE Select | NP_000241.1:n.155-35C>A |