Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41348306C= , CM000681.2:g.41348306C= | GRCh38 |
| NC_000019.9:g.41854211C= , CM000681.1:g.41854211C= | GRCh37 |
| NC_000019.8:g.46546051C= | NCBI36 |
| NG_013364.1:g.10621G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000660.7:c.505G= MANE Select | NP_000651.3:p.Glu169= |
| ENST00000221930.6:c.505G= MANE Select | ENSP00000221930.4:p.Glu169= |
| NM_000660.5:c.505G= | NP_000651.3:p.Glu169= |
| NM_000660.6:c.505G= | NP_000651.3:p.Glu169= |
| ENST00000221930.5:c.505G= | ENSP00000221930.4:p.Glu169= |
| ENST00000597453.1:n.36G= | |
| ENST00000600196.2:c.505G= | ENSP00000504008.1:p.Glu169= |
| ENST00000677934.1:c.505G= | ENSP00000504769.1:p.Glu169= |
| XM_011527242.1:c.505G= | XP_011525544.1:p.Glu169= |
| XM_011527242.2:c.505G= | XP_011525544.1:p.Glu169= |