Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236394471G>T , CM000663.2:g.236394471G>T | GRCh38 |
| NC_000001.10:g.236557771G>T , CM000663.1:g.236557771G>T | GRCh37 |
| NC_000001.9:g.234624394G>T | NCBI36 |
| NG_011566.1:g.5092G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145861.4:c.27G>T MANE Select | NP_665860.2:p.Met9Ile |
| ENST00000334232.9:c.27G>T MANE Select | ENSP00000335076.4:p.Met9Ile |
| NM_145861.2:c.27G>T | NP_665860.2:p.Met9Ile |
| ENST00000334232.8:c.27G>T | ENSP00000335076.4:p.Met9Ile |
| ENST00000439430.5:c.-5-14745G>T | ENSP00000405815.1:n.-5-14745G>T |
| ENST00000637660.1:c.-5-14745G>T | ENSP00000490347.1:n.-5-14745G>T |