Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33017018A= , CM000675.2:g.33017018A= | GRCh38 |
| NC_000013.10:g.33591156A= , CM000675.1:g.33591156A= | GRCh37 |
| NC_000013.9:g.32489156A= | NCBI36 |
| NG_011485.1:g.5586A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004795.4:c.578A= MANE Select | NP_004786.2:p.His193= |
| ENST00000380099.4:c.578A= MANE Select | ENSP00000369442.3:p.His193= |
| NM_004795.3:c.578A= | NP_004786.2:p.His193= |
| ENST00000380099.3:c.578A= | ENSP00000369442.3:p.His193= |
| ENST00000487852.1:n.586A= | |
| XM_006719895.1:c.-103+705A= | XP_006719958.1:n.-103+705A= |
| XM_006719895.2:c.-103+705A= | XP_006719958.1:n.-103+705A= |