Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10647976G>A , CM000682.2:g.10647976G>A | GRCh38 |
| NC_000020.10:g.10628624G>A , CM000682.1:g.10628624G>A | GRCh37 |
| NC_000020.9:g.10576624G>A | NCBI36 |
| NG_007496.1:g.31071C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1704C>T MANE Select | NP_000205.1:p.Arg568= |
| ENST00000254958.10:c.1704C>T MANE Select | ENSP00000254958.4:p.Arg568= |
| NM_000214.2:c.1704C>T | NP_000205.1:p.Arg568= |
| ENST00000254958.9:c.1704C>T | ENSP00000254958.4:p.Arg568= |
| ENST00000423891.6:n.1570C>T | |
| ENST00000613518.1:c.53C>T | |
| ENST00000617965.2:n.2293C>T | |
| ENST00000622545.1:c.435C>T |