Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641688C>G , CM000682.2:g.10641688C>G | GRCh38 |
| NC_000020.10:g.10622336C>G , CM000682.1:g.10622336C>G | GRCh37 |
| NC_000020.9:g.10570336C>G | NCBI36 |
| NG_007496.1:g.37359G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2688G>C MANE Select | NP_000205.1:p.Trp896Cys |
| ENST00000254958.10:c.2688G>C MANE Select | ENSP00000254958.4:p.Trp896Cys |
| NM_000214.2:c.2688G>C | NP_000205.1:p.Trp896Cys |
| ENST00000254958.9:c.2688G>C | ENSP00000254958.4:p.Trp896Cys |
| ENST00000423891.6:n.2554G>C | |
| ENST00000617965.2:n.3277G>C |