Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178102C>G , CM000673.2:g.89178102C>G | GRCh38 |
| NC_000011.9:g.88911270C>G , CM000673.1:g.88911270C>G | GRCh37 |
| NC_000011.8:g.88550918C>G | NCBI36 |
| NG_008748.1:g.5231C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.149C>G MANE Select | NP_000363.1:p.Ser50Ter |
| ENST00000263321.6:c.149C>G MANE Select | ENSP00000263321.4:p.Ser50Ter |
| NM_000372.4:c.149C>G | NP_000363.1:p.Ser50Ter |
| ENST00000263321.5:c.149C>G | ENSP00000263321.4:p.Ser50Ter |
| ENST00000526139.1:n.210C>G | |
| XM_011542970.1:c.149C>G | XP_011541272.1:p.Ser50Ter |
| XM_011542970.2:c.149C>G | XP_011541272.1:p.Ser50Ter |
| XR_001748321.1:n.2718-64569G>C | |
| XR_001748322.1:n.2733-64569G>C |