Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38859602C>T , CM000675.2:g.38859602C>T | GRCh38 |
| NC_000013.10:g.39433739C>T , CM000675.1:g.39433739C>T | GRCh37 |
| NC_000013.9:g.38331739C>T | NCBI36 |
| NG_008125.2:g.177567C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.7519+12C>T MANE Select | NP_997244.4:n.7519+12C>T |
| ENST00000280481.9:c.7519+12C>T MANE Select | ENSP00000280481.7:n.7519+12C>T |
| NM_207361.5:c.7519+12C>T | NP_997244.4:n.7519+12C>T |
| ENST00000280481.8:c.7519+12C>T | ENSP00000280481.7:n.7519+12C>T |