Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207701830G= , CM000663.2:g.207701830G= | GRCh38 |
| NC_000001.10:g.207875175G= , CM000663.1:g.207875175G= | GRCh37 |
| NC_000001.9:g.205941798G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508064.7:c.1328+212G= MANE Select | ENSP00000421736.2:n.1328+212G= | |
| ENST00000294997.10:c.1160+212G= | ENSP00000434864.1:n.1160+212G= | |
| ENST00000508064.6:c.1328+212G= | ENSP00000421736.2:n.1328+212G= | |
| ENST00000530905.1:n.494-8552G= | ||
| NM_175710.1:c.1328+212G= | NP_783641.1:n.1328+212G= | |
| NM_175710.2:c.1328+212G= MANE Select | NP_783641.1:n.1328+212G= |