Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37728022C= , CM000685.2:g.37728022C= | GRCh38 |
| NC_000023.10:g.37587275C= , CM000685.1:g.37587275C= | GRCh37 |
| NC_000023.9:g.37472214C= | NCBI36 |
| NG_007473.1:g.47163C= | |
| NG_007473.3:g.47143C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.895C= MANE Select | ENSP00000367879.3:p.Gln299= | |
| ENST00000378616.3:c.895C= | ENSP00000367879.3:p.Gln299= | |
| ENST00000465127.1:c.171+302022C= | ENSP00000417050.1:n.171+302022C= | |
| NM_021083.2:c.895C= | NP_066569.1:p.Gln299= | |
| NM_021083.4:c.895C= MANE Select | NP_066569.1:p.Gln299= |