Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94408342C>T , CM000669.2:g.94408342C>T | GRCh38 |
| NC_000007.13:g.94037654C>T , CM000669.1:g.94037654C>T | GRCh37 |
| NC_000007.12:g.93875590C>T | NCBI36 |
| NG_007405.1:g.18782C>T , LRG_2:g.18782C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.700C>T MANE Select | NP_000080.2:p.Arg234Cys |
| ENST00000297268.11:c.700C>T MANE Select | ENSP00000297268.6:p.Arg234Cys |
| NM_000089.3:c.700C>T , LRG_2t1:c.700C>T | NP_000080.2:p.Arg234Cys |
| ENST00000297268.10:c.700C>T | ENSP00000297268.6:p.Arg234Cys |
| ENST00000620463.1:c.694C>T | ENSP00000477719.1:p.Arg232Cys |