Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178004T>C , CM000673.2:g.89178004T>C | GRCh38 |
| NC_000011.9:g.88911172T>C , CM000673.1:g.88911172T>C | GRCh37 |
| NC_000011.8:g.88550820T>C | NCBI36 |
| NG_008748.1:g.5133T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.51T>C MANE Select | NP_000363.1:p.Ala17= |
| ENST00000263321.6:c.51T>C MANE Select | ENSP00000263321.4:p.Ala17= |
| NM_000372.4:c.51T>C | NP_000363.1:p.Ala17= |
| ENST00000263321.5:c.51T>C | ENSP00000263321.4:p.Ala17= |
| ENST00000526139.1:n.112T>C | |
| XM_011542970.1:c.51T>C | XP_011541272.1:p.Ala17= |
| XM_011542970.2:c.51T>C | XP_011541272.1:p.Ala17= |
| XR_001748321.1:n.2718-64471A>G | |
| XR_001748322.1:n.2733-64471A>G |