Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226972C= , CM000664.2:g.29226972C= | GRCh38 |
| NC_000002.11:g.29449838C= , CM000664.1:g.29449838C= | GRCh37 |
| NC_000002.10:g.29303342C= | NCBI36 |
| NG_009445.1:g.699595G= , LRG_488:g.699595G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3017G= MANE Select | ENSP00000373700.3:p.Cys1006= | |
| ENST00000431873.6:c.183G= | ||
| ENST00000389048.7:c.3017G= | ENSP00000373700.3:p.Cys1006= | |
| ENST00000618119.4:c.1886G= | ENSP00000482733.1:p.Cys629= | |
| NM_004304.4:c.3017G= | NP_004295.2:p.Cys1006= | |
| XM_024452778.1:c.170G= | XP_024308546.1:p.Cys57= | |
| XR_001738688.2:n.3873G= | ||
| NM_004304.5:c.3017G= MANE Select | NP_004295.2:p.Cys1006= |