Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85477222G>T , CM000670.2:g.85477222G>T | GRCh38 |
| NC_000008.10:g.86389451G>T , CM000670.1:g.86389451G>T | GRCh37 |
| NC_000008.9:g.86576703G>T | NCBI36 |
| NG_007287.1:g.18206G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.610G>T MANE Select | NP_000058.1:p.Glu204Ter |
| ENST00000285379.10:c.610G>T MANE Select | ENSP00000285379.4:p.Glu204Ter |
| NM_000067.2:c.610G>T | NP_000058.1:p.Glu204Ter |
| NM_001293675.1:c.307G>T | NP_001280604.1:p.Glu103Ter |
| NM_001293675.2:c.307G>T | NP_001280604.1:p.Glu103Ter |
| ENST00000285379.9:c.610G>T | ENSP00000285379.4:p.Glu204Ter |
| ENST00000520127.5:c.*197G>T | ENSP00000428443.1:n.*197G>T |