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