Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14000092T= , CM000673.2:g.14000092T= | GRCh38 |
| NC_000011.9:g.14021639T= , CM000673.1:g.14021639T= | GRCh37 |
| NC_000011.8:g.13978215T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006108.4:c.345+17139T= MANE Select | NP_006099.2:n.345+17139T= |
| ENST00000576479.4:c.345+17139T= MANE Select | ENSP00000460236.1:n.345+17139T= |
| NM_006108.3:c.345+17139T= | NP_006099.2:n.345+17139T= |
| ENST00000576479.3:c.345+17139T= | ENSP00000460236.1:n.345+17139T= |