Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189833G= , CM000675.2:g.20189833G= | GRCh38 |
| NC_000013.10:g.20763972G= , CM000675.1:g.20763972G= | GRCh37 |
| NC_000013.9:g.19661972G= | NCBI36 |
| NG_008358.1:g.8143C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-22-230C= MANE Select | ENSP00000372299.4:n.-22-230C= | |
| ENST00000382848.4:c.-22-230C= | ENSP00000372299.4:n.-22-230C= | |
| NM_004004.5:c.-22-230C= | NP_003995.2:n.-22-230C= | |
| XM_011535049.1:c.-22-230C= | XP_011533351.1:n.-22-230C= | |
| XM_011535049.2:c.-22-230C= | XP_011533351.1:n.-22-230C= | |
| NM_004004.6:c.-22-230C= MANE Select | NP_003995.2:n.-22-230C= |