Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584755A= , CM000673.2:g.67584755A= | GRCh38 |
| NC_000011.9:g.67352226A= , CM000673.1:g.67352226A= | GRCh37 |
| NC_000011.8:g.67108802A= | NCBI36 |
| NG_012075.1:g.6161A= , LRG_723:g.6161A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.215A= | ENSP00000381604.1:p.His72= | |
| ENST00000398606.10:c.215A= MANE Select | ENSP00000381607.3:p.His72= | |
| ENST00000646888.1:c.108A= | ENSP00000494477.1:p.Ser36= | |
| ENST00000398603.5:c.215A= | ENSP00000381604.1:p.His72= | |
| ENST00000398606.7:c.215A= | ENSP00000381607.3:p.His72= | |
| ENST00000489040.1:n.214A= | ||
| ENST00000494593.1:n.645A= | ||
| ENST00000498765.5:c.178A= | ||
| NM_000852.3:c.215A= , LRG_723t1:c.215A= | NP_000843.1:p.His72= | |
| NM_000852.4:c.215A= MANE Select | NP_000843.1:p.His72= |