Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30336929G>A , CM000672.2:g.30336929G>A | GRCh38 |
| NC_000010.10:g.30625858G>A , CM000672.1:g.30625858G>A | GRCh37 |
| NC_000010.9:g.30665864G>A | NCBI36 |
| NG_028096.1:g.17410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.654C>T MANE Select | ENSP00000263063.3:p.Ala218= | |
| ENST00000263063.8:c.654C>T | ENSP00000263063.3:p.Ala218= | |
| ENST00000417581.1:c.459C>T | ENSP00000404392.1:p.Ala153= | |
| ENST00000488290.5:n.2409C>T | ||
| NM_018109.3:c.654C>T | NP_060579.3:p.Ala218= | |
| NM_018109.4:c.654C>T MANE Select | NP_060579.3:p.Ala218= |