Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102923789C= , CM000676.2:g.102923789C= | GRCh38 |
| NC_000014.8:g.103390126C= , CM000676.1:g.103390126C= | GRCh37 |
| NC_000014.7:g.102459879C= | NCBI36 |
| NG_008276.2:g.6134C= , LRG_642:g.6134C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030943.4:c.122C= MANE Select | NP_112205.2:p.Thr41= |
| ENST00000299155.10:c.122C= MANE Select | ENSP00000299155.6:p.Thr41= |
| NM_030943.3:c.122C= , LRG_642t1:c.122C= | NP_112205.2:p.Thr41= |
| ENST00000299155.9:c.122C= | ENSP00000299155.5:p.Thr41= |
| ENST00000541086.5:n.868C= | |
| XM_011537202.1:c.-41C= | XP_011535504.1:n.-41C= |
| XM_011537202.3:c.-41C= | XP_011535504.1:n.-41C= |
| XM_011537203.1:c.-41C= | XP_011535505.1:n.-41C= |
| XM_011537203.3:c.-41C= | XP_011535505.1:n.-41C= |
| XM_024449714.1:c.218C= | XP_024305482.1:p.Thr73= |