Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51347036G= , CM000681.2:g.51347036G= | GRCh38 |
| NC_000019.9:g.51850290G= , CM000681.1:g.51850290G= | GRCh37 |
| NC_000019.8:g.56542102G= | NCBI36 |
| NG_007115.1:g.24383C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.461C= MANE Select | NP_001976.1:p.Thr154= |
| ENST00000309244.9:c.461C= MANE Select | ENSP00000311930.3:p.Thr154= |
| NM_001014763.1:c.734C= | NP_001014763.1:p.Thr245= |
| NM_001985.2:c.461C= | NP_001976.1:p.Thr154= |
| ENST00000309244.8:c.461C= | ENSP00000311930.3:p.Thr154= |
| ENST00000354232.8:c.734C= | ENSP00000346173.3:p.Thr245= |
| ENST00000594361.1:n.1495C= | |
| ENST00000596253.1:c.302C= | ENSP00000469628.1:p.Thr101= |
| XM_024451418.1:c.350C= | XP_024307186.1:p.Thr117= |