Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49547866T>G , CM000682.2:g.49547866T>G | GRCh38 |
| NC_000020.10:g.48164403T>G , CM000682.1:g.48164403T>G | GRCh37 |
| NC_000020.9:g.47597810T>G | NCBI36 |
| NG_007940.1:g.25305A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.352A>C MANE Select | NP_000952.1:p.Ser118Arg |
| ENST00000244043.5:c.352A>C MANE Select | ENSP00000244043.3:p.Ser118Arg |
| NM_000961.3:c.352A>C | NP_000952.1:p.Ser118Arg |
| ENST00000244043.4:c.352A>C | ENSP00000244043.3:p.Ser118Arg |
| ENST00000478971.1:n.198+2200A>C |