Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17470454C= , CM000678.2:g.17470454C= | GRCh38 |
| NC_000016.9:g.17564311C= , CM000678.1:g.17564311C= | GRCh37 |
| NC_000016.8:g.17471812C= | NCBI36 |
| NG_015843.1:g.5428G= | |
| NG_015843.2:g.5428G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022166.4:c.343G= MANE Select | NP_071449.1:p.Ala115= |
| ENST00000261381.7:c.343G= MANE Select | ENSP00000261381.6:p.Ala115= |
| NM_022166.3:c.343G= | NP_071449.1:p.Ala115= |
| ENST00000261381.6:c.343G= | ENSP00000261381.6:p.Ala115= |
| XM_011522574.1:c.343G= | XP_011520876.1:p.Ala115= |
| XM_017023539.2:c.343G= | XP_016879028.1:p.Ala115= |
| XM_017023540.2:c.343G= | XP_016879029.1:p.Ala115= |