Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121927677C= , CM000674.2:g.121927677C= | GRCh38 |
| NC_000012.11:g.122365583C= , CM000674.1:g.122365583C= | GRCh37 |
| NC_000012.10:g.120849966C= | NCBI36 |
| NG_021364.1:g.14121C= | |
| NG_021364.2:g.14121C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144668.6:c.747+3687C= MANE Select | NP_653269.3:n.747+3687C= |
| ENST00000288912.9:c.747+3687C= MANE Select | ENSP00000288912.4:n.747+3687C= |
| NM_001178003.1:c.747+3687C= | NP_001171474.1:n.747+3687C= |
| NM_001178003.2:c.747+3687C= | NP_001171474.1:n.747+3687C= |
| NM_144668.5:c.747+3687C= | NP_653269.3:n.747+3687C= |
| ENST00000288912.8:c.747+3687C= | ENSP00000288912.4:n.747+3687C= |
| ENST00000397454.2:c.747+3687C= | ENSP00000380595.2:n.747+3687C= |
| ENST00000540779.1:n.645+3687C= |