Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7677916T= , CM000681.2:g.7677916T= | GRCh38 |
| NC_000019.9:g.7742802T= , CM000681.1:g.7742802T= | GRCh37 |
| NC_000019.8:g.7648802T= | NCBI36 |
| NG_055288.1:g.2096T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174918.3:c.146-188T= MANE Select | NP_777578.3:n.146-188T= |
| ENST00000333598.8:c.146-188T= MANE Select | ENSP00000329920.3:n.146-188T= |
| NM_174918.2:c.185-188T= | NP_777578.2:n.185-188T= |
| ENST00000333598.7:c.185-188T= | ENSP00000329920.2:n.185-188T= |
| ENST00000597445.1:c.56-188T= | ENSP00000471413.1:n.56-188T= |