Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177081C>T , CM000678.2:g.177081C>T | GRCh38 |
| NC_000016.9:g.227080C>T , CM000678.1:g.227080C>T | GRCh37 |
| NC_000016.8:g.167080C>T | NCBI36 |
| NG_000006.1:g.37944C>T | |
| NG_059186.1:g.5431C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.248C>T MANE Select | NP_000549.1:p.Ala83Val |
| ENST00000320868.9:c.248C>T MANE Select | ENSP00000322421.5:p.Ala83Val |
| NM_000558.4:c.248C>T | NP_000549.1:p.Ala83Val |
| ENST00000397797.1:c.152C>T | ENSP00000380899.1:p.Ala51Val |
| ENST00000472694.1:n.384C>T | |
| ENST00000487791.1:n.217C>T |