Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30322415G>T , CM000672.2:g.30322415G>T | GRCh38 |
| NC_000010.10:g.30611344G>T , CM000672.1:g.30611344G>T | GRCh37 |
| NC_000010.9:g.30651350G>T | NCBI36 |
| NG_028096.1:g.31924C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018109.4:c.1195C>A MANE Select | NP_060579.3:p.Leu399Ile |
| ENST00000263063.9:c.1195C>A MANE Select | ENSP00000263063.3:p.Leu399Ile |
| NM_018109.3:c.1195C>A | NP_060579.3:p.Leu399Ile |
| ENST00000263063.8:c.1195C>A | ENSP00000263063.3:p.Leu399Ile |
| ENST00000488290.5:n.2950C>A |