Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57251036C= , CM000682.2:g.57251036C= | GRCh38 |
| NC_000020.10:g.55826092C= , CM000682.1:g.55826092C= | GRCh37 |
| NC_000020.9:g.55259499C= | NCBI36 |
| NG_032771.1:g.20616G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395863.8:c.418+14669G= MANE Select | ENSP00000379204.3:n.418+14669G= | |
| ENST00000395863.7:c.418+14669G= | ENSP00000379204.3:n.418+14669G= | |
| ENST00000395864.7:c.418+14669G= | ENSP00000379205.3:n.418+14669G= | |
| ENST00000433911.1:c.74+14669G= | ||
| ENST00000450594.6:c.418+14669G= | ENSP00000398687.2:n.418+14669G= | |
| NM_001719.2:c.418+14669G= | NP_001710.1:n.418+14669G= | |
| NM_001719.3:c.418+14669G= MANE Select | NP_001710.1:n.418+14669G= |