Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31666493C>T , CM000683.2:g.31666493C>T | GRCh38 |
| NC_000021.8:g.33038806C>T , CM000683.1:g.33038806C>T | GRCh37 |
| NC_000021.7:g.31960677C>T | NCBI36 |
| NG_008689.1:g.11872C>T , LRG_652:g.11872C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.214C>T MANE Select | NP_000445.1:p.His72Tyr |
| ENST00000270142.11:c.214C>T MANE Select | ENSP00000270142.7:p.His72Tyr |
| NM_000454.4:c.214C>T , LRG_652t1:c.214C>T | NP_000445.1:p.His72Tyr |
| ENST00000270142.10:c.214C>T | ENSP00000270142.6:p.His72Tyr |
| ENST00000389995.4:c.157C>T | ENSP00000374645.4:p.His53Tyr |
| ENST00000470944.1:n.1142C>T | |
| ENST00000476106.5:n.477C>T |