Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.92590245C= , CM000666.2:g.92590245C= | GRCh38 |
| NC_000004.11:g.93511396C= , CM000666.1:g.93511396C= | GRCh37 |
| NC_000004.10:g.93730419C= | NCBI36 |
| NG_034113.1:g.290847C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001510.4:c.203C= MANE Select | NP_001501.2:p.Thr68= |
| ENST00000282020.9:c.203C= MANE Select | ENSP00000282020.4:p.Thr68= |
| NM_001286838.1:c.203C= | NP_001273767.1:p.Thr68= |
| NM_001510.3:c.203C= | NP_001501.2:p.Thr68= |
| ENST00000282020.8:c.203C= | ENSP00000282020.4:p.Thr68= |
| ENST00000505687.5:n.375C= | |
| ENST00000510992.5:c.203C= | ENSP00000421257.1:p.Thr68= |
| XM_017008122.2:c.203C= | XP_016863611.1:p.Thr68= |
| XM_024454024.1:c.203C= | XP_024309792.1:p.Thr68= |