Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652513G>A , CM000682.2:g.10652513G>A | GRCh38 |
| NC_000020.10:g.10633161G>A , CM000682.1:g.10633161G>A | GRCh37 |
| NC_000020.9:g.10581161G>A | NCBI36 |
| NG_007496.1:g.26534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.841C>T MANE Select | ENSP00000254958.4:p.Gln281Ter | |
| ENST00000617965.2:n.210C>T | ||
| ENST00000254958.9:c.841C>T | ENSP00000254958.4:p.Gln281Ter | |
| ENST00000423891.6:n.707C>T | ||
| ENST00000617965.1:n.210C>T | ||
| NM_000214.2:c.841C>T | NP_000205.1:p.Gln281Ter | |
| NM_000214.3:c.841C>T MANE Select | NP_000205.1:p.Gln281Ter |