Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33114394A= , CM000681.2:g.33114394A= | GRCh38 |
| NC_000019.9:g.33605300A= , CM000681.1:g.33605300A= | GRCh37 |
| NC_000019.8:g.38297140A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018025.3:c.2171A= MANE Select | NP_060495.2:p.His724= |
| ENST00000170564.7:c.2171A= MANE Select | ENSP00000170564.1:p.His724= |
| NM_018025.2:c.2171A= | NP_060495.2:p.His724= |
| NR_135270.1:n.2485A= | |
| NR_135270.2:n.2184A= | |
| ENST00000170564.6:c.2171A= | ENSP00000170564.1:p.His724= |
| ENST00000592262.1:n.1107A= | |
| XM_011527056.1:c.2171A= | XP_011525358.1:p.His724= |