Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37728023A= , CM000685.2:g.37728023A= | GRCh38 |
| NC_000023.10:g.37587276A= , CM000685.1:g.37587276A= | GRCh37 |
| NC_000023.9:g.37472215A= | NCBI36 |
| NG_007473.1:g.47164A= | |
| NG_007473.3:g.47144A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.896A= MANE Select | ENSP00000367879.3:p.Gln299= | |
| ENST00000378616.3:c.896A= | ENSP00000367879.3:p.Gln299= | |
| ENST00000465127.1:c.171+302023A= | ENSP00000417050.1:n.171+302023A= | |
| NM_021083.2:c.896A= | NP_066569.1:p.Gln299= | |
| NM_021083.4:c.896A= MANE Select | NP_066569.1:p.Gln299= |