Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29228918C>A , CM000664.2:g.29228918C>A | GRCh38 |
| NC_000002.11:g.29451784C>A , CM000664.1:g.29451784C>A | GRCh37 |
| NC_000002.10:g.29305288C>A | NCBI36 |
| NG_009445.1:g.697649G>T , LRG_488:g.697649G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.2781G>T MANE Select | NP_004295.2:p.Gly927= |
| ENST00000389048.8:c.2781G>T MANE Select | ENSP00000373700.3:p.Gly927= |
| NM_004304.4:c.2781G>T | NP_004295.2:p.Gly927= |
| ENST00000389048.7:c.2781G>T | ENSP00000373700.3:p.Gly927= |
| ENST00000618119.4:c.1650G>T | ENSP00000482733.1:p.Gly550= |
| XM_024452778.1:c.-33+40G>T | XP_024308546.1:n.-33+40G>T |
| XR_001738688.2:n.3671+40G>T |