Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663577C= , CM000676.2:g.36663577C= | GRCh38 |
| NC_000014.8:g.37132782C= , CM000676.1:g.37132782C= | GRCh37 |
| NC_000014.7:g.36202533C= | NCBI36 |
| NG_013357.1:g.11010C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361487.7:c.631+54C= MANE Select | ENSP00000355245.6:n.631+54C= | |
| ENST00000361487.6:c.631+54C= | ENSP00000355245.6:n.631+54C= | |
| ENST00000402703.6:c.631+54C= | ENSP00000384817.2:n.631+54C= | |
| ENST00000554201.1:c.70+54C= | ENSP00000450434.1:n.70+54C= | |
| NM_006194.3:c.631+54C= | NP_006185.1:n.631+54C= | |
| NM_001372076.1:c.631+54C= MANE Select | NP_001359005.1:n.631+54C= | |
| NM_006194.4:c.631+54C= | NP_006185.1:n.631+54C= |