Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94429427C>A , CM000669.2:g.94429427C>A | GRCh38 |
| NC_000007.13:g.94058739C>A , CM000669.1:g.94058739C>A | GRCh37 |
| NC_000007.12:g.93896675C>A | NCBI36 |
| NG_007405.1:g.39867C>A , LRG_2:g.39867C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3951C>A MANE Select | NP_000080.2:p.Cys1317Ter |
| ENST00000297268.11:c.3951C>A MANE Select | ENSP00000297268.6:p.Cys1317Ter |
| NM_000089.3:c.3951C>A , LRG_2t1:c.3951C>A | NP_000080.2:p.Cys1317Ter |
| ENST00000297268.10:c.3951C>A | ENSP00000297268.6:p.Cys1317Ter |
| ENST00000464916.1:n.999C>A | |
| ENST00000481570.5:n.4732C>A | |
| ENST00000620463.1:c.3945C>A | ENSP00000477719.1:p.Cys1315Ter |