Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014143C>T , CM000663.2:g.1014143C>T | GRCh38 |
| NC_000001.10:g.949523C>T , CM000663.1:g.949523C>T | GRCh37 |
| NC_000001.9:g.939386C>T | NCBI36 |
| NG_033033.1:g.5677C>T | |
| NG_033033.2:g.18006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.139C>T | ENSP00000485643.1:p.Gln47Ter | |
| ENST00000649529.1:c.163C>T MANE Select | ENSP00000496832.1:p.Gln55Ter | |
| ENST00000379389.4:c.163C>T | ENSP00000368699.4:p.Gln55Ter | |
| ENST00000624652.1:c.139C>T | ENSP00000485313.1:p.Gln47Ter | |
| ENST00000624697.3:c.139C>T | ENSP00000485643.1:p.Gln47Ter | |
| NM_005101.3:c.163C>T | NP_005092.1:p.Gln55Ter | |
| NM_005101.4:c.163C>T MANE Select | NP_005092.1:p.Gln55Ter |