Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227028G>A , CM000664.2:g.29227028G>A | GRCh38 |
| NC_000002.11:g.29449894G>A , CM000664.1:g.29449894G>A | GRCh37 |
| NC_000002.10:g.29303398G>A | NCBI36 |
| NG_009445.1:g.699539C>T , LRG_488:g.699539C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.2961C>T MANE Select | NP_004295.2:p.Cys987= |
| ENST00000389048.8:c.2961C>T MANE Select | ENSP00000373700.3:p.Cys987= |
| NM_004304.4:c.2961C>T | NP_004295.2:p.Cys987= |
| ENST00000389048.7:c.2961C>T | ENSP00000373700.3:p.Cys987= |
| ENST00000431873.6:c.127C>T | |
| ENST00000618119.4:c.1830C>T | ENSP00000482733.1:p.Cys610= |
| XM_024452778.1:c.114C>T | XP_024308546.1:p.Cys38= |
| XR_001738688.2:n.3817C>T |