Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238125333C>T , CM000664.2:g.238125333C>T | GRCh38 |
| NC_000002.11:g.239033974C>T , CM000664.1:g.239033974C>T | GRCh37 |
| NC_000002.10:g.238698713C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194312.4:c.1051C>T MANE Select | NP_919288.2:p.Arg351Cys |
| ENST00000343063.8:c.1051C>T MANE Select | ENSP00000339115.3:p.Arg351Cys |
| NM_194312.2:c.1051C>T | NP_919288.2:p.Arg351Cys |
| NM_194312.3:c.1051C>T | NP_919288.2:p.Arg351Cys |
| ENST00000343063.7:c.1051C>T | ENSP00000339115.3:p.Arg351Cys |
| ENST00000409169.5:c.919C>T | ENSP00000386577.1:p.Arg307Cys |
| ENST00000612395.1:c.-2206C>T | ENSP00000479394.1:n.-2206C>T |