Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45406676G= , CM000681.2:g.45406676G= | GRCh38 |
| NC_000019.9:g.45909934G= , CM000681.1:g.45909934G= | GRCh37 |
| NC_000019.8:g.50601774G= | NCBI36 |
| NG_015839.2:g.77153C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012099.3:c.-21G= MANE Select | NP_036231.1:n.-21G= |
| ENST00000309424.8:c.-21G= MANE Select | ENSP00000310966.3:n.-21G= |
| NM_001297590.1:c.-21G= | NP_001284519.1:n.-21G= |
| NM_001297590.2:c.-21G= | NP_001284519.1:n.-21G= |
| NM_001297590.3:c.-21G= | NP_001284519.1:n.-21G= |
| NM_012099.1:c.-21G= | NP_036231.1:n.-21G= |
| NM_012099.2:c.-21G= | NP_036231.1:n.-21G= |
| ENST00000309424.7:c.-21G= | ENSP00000310966.3:n.-21G= |
| ENST00000592852.1:c.-930G= | ENSP00000467771.1:n.-930G= |