Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57249477A= , CM000682.2:g.57249477A= | GRCh38 |
| NC_000020.10:g.55824533A= , CM000682.1:g.55824533A= | GRCh37 |
| NC_000020.9:g.55257940A= | NCBI36 |
| NG_032771.1:g.22175T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001719.3:c.418+16228T= MANE Select | NP_001710.1:n.418+16228T= |
| ENST00000395863.8:c.418+16228T= MANE Select | ENSP00000379204.3:n.418+16228T= |
| NM_001719.2:c.418+16228T= | NP_001710.1:n.418+16228T= |
| ENST00000395863.7:c.418+16228T= | ENSP00000379204.3:n.418+16228T= |
| ENST00000395864.7:c.418+16228T= | ENSP00000379205.3:n.418+16228T= |
| ENST00000433911.1:c.74+16228T= | |
| ENST00000450594.6:c.418+16228T= | ENSP00000398687.2:n.418+16228T= |