Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119871089G>A , CM000685.2:g.119871089G>A | GRCh38 |
| NC_000023.10:g.119005052G>A , CM000685.1:g.119005052G>A | GRCh37 |
| NC_000023.9:g.118889080G>A | NCBI36 |
| NG_009381.1:g.4319G>A | |
| NG_021227.1:g.5740C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006978.3:c.525C>T MANE Select | NP_008909.1:p.Ser175= |
| ENST00000371442.4:c.525C>T MANE Select | ENSP00000360497.2:p.Ser175= |
| NM_006978.2:c.525C>T | NP_008909.1:p.Ser175= |
| ENST00000371442.3:c.525C>T | ENSP00000360497.2:p.Ser175= |