Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226972C>A , CM000664.2:g.29226972C>A | GRCh38 |
| NC_000002.11:g.29449838C>A , CM000664.1:g.29449838C>A | GRCh37 |
| NC_000002.10:g.29303342C>A | NCBI36 |
| NG_009445.1:g.699595G>T , LRG_488:g.699595G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3017G>T MANE Select | ENSP00000373700.3:p.Cys1006Phe | |
| ENST00000431873.6:c.183G>T | ||
| ENST00000389048.7:c.3017G>T | ENSP00000373700.3:p.Cys1006Phe | |
| ENST00000618119.4:c.1886G>T | ENSP00000482733.1:p.Cys629Phe | |
| NM_004304.4:c.3017G>T | NP_004295.2:p.Cys1006Phe | |
| XM_024452778.1:c.170G>T | XP_024308546.1:p.Cys57Phe | |
| XR_001738688.2:n.3873G>T | ||
| NM_004304.5:c.3017G>T MANE Select | NP_004295.2:p.Cys1006Phe |