Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119018306G>A , CM000673.2:g.119018306G>A | GRCh38 |
| NC_000011.9:g.118889016G>A , CM000673.1:g.118889016G>A | GRCh37 |
| NC_000011.8:g.118394226G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001028.3:c.-22C>T MANE Select | NP_001019.1:n.-22C>T |
| ENST00000527673.2:c.-22C>T MANE Select | ENSP00000435096.1:n.-22C>T |
| NM_001028.2:c.-22C>T | NP_001019.1:n.-22C>T |
| ENST00000524864.1:n.361C>T | |
| ENST00000527673.1:c.-22C>T | ENSP00000435096.1:n.-22C>T |
| ENST00000527791.5:c.-22C>T | ENSP00000436193.1:n.-22C>T |
| ENST00000527853.1:n.386C>T | |
| ENST00000532567.5:c.-22C>T | ENSP00000431634.1:n.-22C>T |