Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652598C>T , CM000682.2:g.10652598C>T | GRCh38 |
| NC_000020.10:g.10633246C>T , CM000682.1:g.10633246C>T | GRCh37 |
| NC_000020.9:g.10581246C>T | NCBI36 |
| NG_007496.1:g.26449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.756G>A MANE Select | ENSP00000254958.4:p.Arg252= | |
| ENST00000617965.2:n.125G>A | ||
| ENST00000254958.9:c.756G>A | ENSP00000254958.4:p.Arg252= | |
| ENST00000423891.6:n.622G>A | ||
| ENST00000617965.1:n.125G>A | ||
| NM_000214.2:c.756G>A | NP_000205.1:p.Arg252= | |
| NM_000214.3:c.756G>A MANE Select | NP_000205.1:p.Arg252= |