Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.140622461G>A , CM000666.2:g.140622461G>A | GRCh38 |
| NC_000004.11:g.141543615G>A , CM000666.1:g.141543615G>A | GRCh37 |
| NC_000004.10:g.141763065G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015130.3:c.3535C>T MANE Select | NP_055945.2:p.His1179Tyr |
| ENST00000442267.3:c.3535C>T MANE Select | ENSP00000411197.2:p.His1179Tyr |
| NM_015130.2:c.3535C>T | NP_055945.2:p.His1179Tyr |
| ENST00000442267.2:c.3535C>T | ENSP00000411197.2:p.His1179Tyr |