Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816254C= , CM000681.2:g.4816254C= | GRCh38 |
| NC_000019.9:g.4816266C= , CM000681.1:g.4816266C= | GRCh37 |
| NC_000019.8:g.4767266C= | NCBI36 |
| NG_031998.1:g.20489G= , LRG_358:g.20489G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2124G= MANE Select | ENSP00000248244.4:p.Thr708= | |
| ENST00000248244.5:c.2124G= | ENSP00000248244.4:p.Thr708= | |
| ENST00000621756.1:c.1626G= | ENSP00000479467.1:p.Thr542= | |
| NM_182919.3:c.2124G= , LRG_358t1:c.2124G= | NP_891549.1:p.Thr708= | |
| NM_001385678.1:c.2082G= | NP_001372607.1:p.Thr694= | |
| NM_001385679.1:c.1989G= | NP_001372608.1:p.Thr663= | |
| NM_001385680.1:c.1482G= | NP_001372609.1:p.Thr494= | |
| NM_182919.4:c.2124G= MANE Select | NP_891549.1:p.Thr708= |