Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240872988C>G , CM000664.2:g.240872988C>G | GRCh38 |
| NC_000002.11:g.241812405C>G , CM000664.1:g.241812405C>G | GRCh37 |
| NC_000002.10:g.241461078C>G | NCBI36 |
| NG_008005.1:g.9244C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.534C>G MANE Select | NP_000021.1:p.Cys178Trp |
| ENST00000307503.4:c.534C>G MANE Select | ENSP00000302620.3:p.Cys178Trp |
| NM_000030.2:c.534C>G | NP_000021.1:p.Cys178Trp |
| ENST00000307503.3:c.534C>G | ENSP00000302620.3:p.Cys178Trp |
| ENST00000472436.1:n.554C>G | |
| ENST00000476698.1:n.271C>G |