| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23403342G>A , CM000676.2:g.23403342G>A | GRCh38 |
| NC_000014.8:g.23872551G>A , CM000676.1:g.23872551G>A | GRCh37 |
| NC_000014.7:g.22942391G>A | NCBI36 |
| NG_023444.1:g.9936C>T , LRG_389:g.9936C>T |
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.898+6C>T MANE Select | NP_002462.2:n.898+6C>T |
| ENST00000405093.9:c.898+6C>T MANE Select | ENSP00000386041.3:n.898+6C>T |
| NM_002471.3:c.898+6C>T , LRG_389t1:c.898+6C>T | NP_002462.2:n.898+6C>T |
| ENST00000356287.3:c.898+6C>T | ENSP00000348634.3:n.898+6C>T |
| ENST00000405093.7:c.898+6C>T | ENSP00000386041.3:n.898+6C>T |
| ENST00000557461.1:n.952+6C>T | |
| ENST00000557461.2:n.965+6C>T |