Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.113471356C>T , CM000674.2:g.113471356C>T | GRCh38 |
| NC_000012.11:g.113909161C>T , CM000674.1:g.113909161C>T | GRCh37 |
| NC_000012.10:g.112393544C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261731.4:c.143G>A MANE Select | ENSP00000261731.2:p.Gly48Asp | |
| ENST00000261731.3:c.143G>A | ENSP00000261731.2:p.Gly48Asp | |
| NM_022363.2:c.143G>A | NP_071758.1:p.Gly48Asp | |
| NM_022363.3:c.143G>A MANE Select | NP_071758.1:p.Gly48Asp |