Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29483527C>T , CM000684.2:g.29483527C>T | GRCh38 |
| NC_000022.10:g.29879516C>T , CM000684.1:g.29879516C>T | GRCh37 |
| NC_000022.9:g.28209516C>T | NCBI36 |
| NG_008404.1:g.8336C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.1036C>T MANE Select | NP_066554.2:p.Arg346Cys |
| ENST00000310624.7:c.1036C>T MANE Select | ENSP00000311997.6:p.Arg346Cys |
| NM_021076.3:c.1036C>T | NP_066554.2:p.Arg346Cys |
| ENST00000310624.6:c.1036C>T | ENSP00000311997.6:p.Arg346Cys |
| XM_011530200.1:c.1036C>T | XP_011528502.1:p.Arg346Cys |
| XM_011530200.2:c.1036C>T | XP_011528502.1:p.Arg346Cys |