Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227593C>T , CM000664.2:g.29227593C>T | GRCh38 |
| NC_000002.11:g.29450459C>T , CM000664.1:g.29450459C>T | GRCh37 |
| NC_000002.10:g.29303963C>T | NCBI36 |
| NG_009445.1:g.698974G>A , LRG_488:g.698974G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.2895G>A MANE Select | NP_004295.2:p.Leu965= |
| ENST00000389048.8:c.2895G>A MANE Select | ENSP00000373700.3:p.Leu965= |
| NM_004304.4:c.2895G>A | NP_004295.2:p.Leu965= |
| ENST00000389048.7:c.2895G>A | ENSP00000373700.3:p.Leu965= |
| ENST00000431873.6:c.61G>A | |
| ENST00000618119.4:c.1764G>A | ENSP00000482733.1:p.Leu588= |
| XM_024452778.1:c.48G>A | XP_024308546.1:p.Leu16= |
| XR_001738688.2:n.3751G>A |