Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709783G= , CM000681.2:g.6709783G= | GRCh38 |
| NC_000019.9:g.6709794G= , CM000681.1:g.6709794G= | GRCh37 |
| NC_000019.8:g.6660794G= | NCBI36 |
| NG_009557.1:g.15869C= , LRG_27:g.15869C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1623C= | ENSP00000512083.1:p.Thr541= | |
| ENST00000695654.1:c.870C= | ENSP00000512085.1:p.Thr290= | |
| ENST00000695655.1:c.687C= | ENSP00000512086.1:n.687C= | |
| ENST00000695692.1:n.1110C= | ||
| ENST00000245907.11:c.1746C= MANE Select | ENSP00000245907.4:p.Thr582= | |
| ENST00000245907.10:c.1746C= | ENSP00000245907.4:p.Thr582= | |
| ENST00000600763.1:n.379C= | ||
| NM_000064.3:c.1746C= | NP_000055.2:p.Thr582= | |
| NM_000064.4:c.1746C= MANE Select | NP_000055.2:p.Thr582= |