Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32050007G>A , CM000684.2:g.32050007G>A | GRCh38 |
| NC_000022.10:g.32445994G>A , CM000684.1:g.32445994G>A | GRCh37 |
| NC_000022.9:g.30775994G>A | NCBI36 |
| NG_017045.1:g.11976G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.200G>A MANE Select | NP_000334.1:p.Trp67Ter |
| ENST00000266088.9:c.200G>A MANE Select | ENSP00000266088.4:p.Trp67Ter |
| NM_000343.3:c.200G>A | NP_000334.1:p.Trp67Ter |
| ENST00000266088.8:c.200G>A | ENSP00000266088.4:p.Trp67Ter |
| XM_011530331.1:c.200G>A | XP_011528633.1:p.Trp67Ter |