Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928677G= , CM000685.2:g.154928677G= | GRCh38 |
| NC_000023.10:g.154156952G= , CM000685.1:g.154156952G= | GRCh37 |
| NC_000023.9:g.153810146G= | NCBI36 |
| NG_011403.1:g.99047C= | |
| NG_011403.2:g.99047C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.5113C= MANE Select | ENSP00000353393.4:p.Gln1705= | |
| ENST00000360256.8:c.5113C= | ENSP00000353393.4:p.Gln1705= | |
| NM_000132.3:c.5113C= | NP_000123.1:p.Gln1705= | |
| XM_011531126.1:c.5008C= | XP_011529428.1:p.Gln1670= | |
| NM_000132.4:c.5113C= MANE Select | NP_000123.1:p.Gln1705= |