Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96395304G>A , CM000672.2:g.96395304G>A | GRCh38 |
| NC_000010.10:g.98155061G>A , CM000672.1:g.98155061G>A | GRCh37 |
| NC_000010.9:g.98145051G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012465.4:c.1609C>T MANE Select | NP_036597.1:p.His537Tyr |
| ENST00000357947.4:c.1609C>T MANE Select | ENSP00000350630.3:p.His537Tyr |
| NM_012465.3:c.1609C>T | NP_036597.1:p.His537Tyr |
| ENST00000357947.3:c.1609C>T | ENSP00000350630.3:p.His537Tyr |
| ENST00000469598.1:n.1776C>T |