Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23427584C>A , CM000676.2:g.23427584C>A | GRCh38 |
| NC_000014.8:g.23896793C>A , CM000676.1:g.23896793C>A | GRCh37 |
| NC_000014.7:g.22966633C>A | NCBI36 |
| NG_007884.1:g.13078G>T , LRG_384:g.13078G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.1888+1G>T MANE Select | NP_000248.2:n.1888+1G>T |
| ENST00000355349.4:c.1888+1G>T MANE Select | ENSP00000347507.3:n.1888+1G>T |
| NM_000257.3:c.1888+1G>T | NP_000248.2:n.1888+1G>T |
| ENST00000355349.3:c.1888+1G>T | ENSP00000347507.3:n.1888+1G>T |
| XM_017021340.1:c.1888+1G>T | XP_016876829.1:n.1888+1G>T |
| XR_245686.3:n.1994+1G>T |