Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69816365G>A , CM000673.2:g.69816365G>A | GRCh38 |
| NC_000011.9:g.69631133G>A , CM000673.1:g.69631133G>A | GRCh37 |
| NC_000011.8:g.69340070G>A | NCBI36 |
| NG_009016.1:g.8060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334134.4:c.279C>T MANE Select | ENSP00000334122.2:p.Ser93= | |
| ENST00000646078.1:n.126C>T | ||
| ENST00000334134.2:c.279C>T | ENSP00000334122.2:p.Ser93= | |
| NM_005247.2:c.279C>T | NP_005238.1:p.Ser93= | |
| NM_005247.3:c.279C>T | NP_005238.1:p.Ser93= | |
| NM_005247.4:c.279C>T MANE Select | NP_005238.1:p.Ser93= |