Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32050002G= , CM000684.2:g.32050002G= | GRCh38 |
| NC_000022.10:g.32445989G= , CM000684.1:g.32445989G= | GRCh37 |
| NC_000022.9:g.30775989G= | NCBI36 |
| NG_017045.1:g.11971G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.195G= MANE Select | ENSP00000266088.4:p.Met65= | |
| ENST00000266088.8:c.195G= | ENSP00000266088.4:p.Met65= | |
| NM_000343.3:c.195G= | NP_000334.1:p.Met65= | |
| XM_011530331.1:c.195G= | XP_011528633.1:p.Met65= | |
| NM_000343.4:c.195G= MANE Select | NP_000334.1:p.Met65= |