Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177073G>T , CM000678.2:g.177073G>T | GRCh38 |
| NC_000016.9:g.227072G>T , CM000678.1:g.227072G>T | GRCh37 |
| NC_000016.8:g.167072G>T | NCBI36 |
| NG_000006.1:g.37936G>T | |
| NG_059186.1:g.5423G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.240G>T MANE Select | ENSP00000322421.5:p.Ala80= | |
| ENST00000397797.1:c.144G>T | ENSP00000380899.1:p.Ala48= | |
| ENST00000472694.1:n.376G>T | ||
| ENST00000487791.1:n.209G>T | ||
| NM_000558.4:c.240G>T | NP_000549.1:p.Ala80= | |
| NM_000558.5:c.240G>T MANE Select | NP_000549.1:p.Ala80= |