Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94428349T>C , CM000669.2:g.94428349T>C | GRCh38 |
| NC_000007.13:g.94057661T>C , CM000669.1:g.94057661T>C | GRCh37 |
| NC_000007.12:g.93895597T>C | NCBI36 |
| NG_007405.1:g.38789T>C , LRG_2:g.38789T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3583T>C MANE Select | NP_000080.2:p.Cys1195Arg |
| ENST00000297268.11:c.3583T>C MANE Select | ENSP00000297268.6:p.Cys1195Arg |
| NM_000089.3:c.3583T>C , LRG_2t1:c.3583T>C | NP_000080.2:p.Cys1195Arg |
| ENST00000297268.10:c.3583T>C | ENSP00000297268.6:p.Cys1195Arg |
| ENST00000464916.1:n.631T>C | |
| ENST00000481570.5:n.4364T>C | |
| ENST00000620463.1:c.3577T>C | ENSP00000477719.1:p.Cys1193Arg |