Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94428350G>C , CM000669.2:g.94428350G>C | GRCh38 |
| NC_000007.13:g.94057662G>C , CM000669.1:g.94057662G>C | GRCh37 |
| NC_000007.12:g.93895598G>C | NCBI36 |
| NG_007405.1:g.38790G>C , LRG_2:g.38790G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3584G>C MANE Select | NP_000080.2:p.Cys1195Ser |
| ENST00000297268.11:c.3584G>C MANE Select | ENSP00000297268.6:p.Cys1195Ser |
| NM_000089.3:c.3584G>C , LRG_2t1:c.3584G>C | NP_000080.2:p.Cys1195Ser |
| ENST00000297268.10:c.3584G>C | ENSP00000297268.6:p.Cys1195Ser |
| ENST00000464916.1:n.632G>C | |
| ENST00000481570.5:n.4365G>C | |
| ENST00000620463.1:c.3578G>C | ENSP00000477719.1:p.Cys1193Ser |