Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16479157G>T , CM000681.2:g.16479157G>T | GRCh38 |
| NC_000019.9:g.16589968G>T , CM000681.1:g.16589968G>T | GRCh37 |
| NC_000019.8:g.16450968G>T | NCBI36 |
| NG_031959.2:g.154048C>A , LRG_422:g.154048C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145046.5:c.1129C>A MANE Select | NP_659483.2:p.Gln377Lys |
| ENST00000269881.8:c.1129C>A MANE Select | ENSP00000269881.3:p.Gln377Lys |
| NM_145046.4:c.1129C>A , LRG_422t1:c.1129C>A | NP_659483.2:p.Gln377Lys |
| ENST00000269881.7:c.1129C>A | ENSP00000269881.2:p.Gln377Lys |
| ENST00000409035.1:c.*932C>A | ENSP00000386951.2:n.*932C>A |