Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29296979C>A , CM000664.2:g.29296979C>A | GRCh38 |
| NC_000002.11:g.29519845C>A , CM000664.1:g.29519845C>A | GRCh37 |
| NC_000002.10:g.29373349C>A | NCBI36 |
| NG_009445.1:g.629588G>T , LRG_488:g.629588G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1726G>T MANE Select | NP_004295.2:p.Glu576Ter |
| ENST00000389048.8:c.1726G>T MANE Select | ENSP00000373700.3:p.Glu576Ter |
| NM_004304.4:c.1726G>T | NP_004295.2:p.Glu576Ter |
| ENST00000389048.7:c.1726G>T | ENSP00000373700.3:p.Glu576Ter |
| ENST00000498037.1:n.281G>T | |
| ENST00000618119.4:c.595G>T | ENSP00000482733.1:p.Glu199Ter |
| XR_001738688.2:n.2656G>T |