Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014143C= , CM000663.2:g.1014143C= | GRCh38 |
| NC_000001.10:g.949523C= , CM000663.1:g.949523C= | GRCh37 |
| NC_000001.9:g.939386C= | NCBI36 |
| NG_033033.1:g.5677C= | |
| NG_033033.2:g.18006C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.139C= | ENSP00000485643.1:p.Gln47= | |
| ENST00000649529.1:c.163C= MANE Select | ENSP00000496832.1:p.Gln55= | |
| ENST00000379389.4:c.163C= | ENSP00000368699.4:p.Gln55= | |
| ENST00000624652.1:c.139C= | ENSP00000485313.1:p.Gln47= | |
| ENST00000624697.3:c.139C= | ENSP00000485643.1:p.Gln47= | |
| NM_005101.3:c.163C= | NP_005092.1:p.Gln55= | |
| NM_005101.4:c.163C= MANE Select | NP_005092.1:p.Gln55= |