Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388008C= , CM000665.2:g.190388008C= | GRCh38 |
| NC_000003.11:g.190105797C= , CM000665.1:g.190105797C= | GRCh37 |
| NC_000003.10:g.191588491C= | NCBI36 |
| NG_008149.1:g.4957C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-112C= | ENSP00000264734.2:n.-112C= | |
| ENST00000468220.1:n.306+13405C= | ||
| NM_006580.3:c.-112C= | NP_006571.1:n.-112C= | |
| NM_001378492.1:c.-93-229C= | NP_001365421.1:n.-93-229C= | |
| NM_001378493.1:c.-93-229C= | NP_001365422.1:n.-93-229C= |