Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178593T= , CM000673.2:g.89178593T= | GRCh38 |
| NC_000011.9:g.88911761T= , CM000673.1:g.88911761T= | GRCh37 |
| NC_000011.8:g.88551409T= | NCBI36 |
| NG_008748.1:g.5722T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.640T= MANE Select | ENSP00000263321.4:p.Phe214= | |
| ENST00000263321.5:c.640T= | ENSP00000263321.4:p.Phe214= | |
| ENST00000526139.1:n.701T= | ||
| NM_000372.4:c.640T= | NP_000363.1:p.Phe214= | |
| XM_011542970.1:c.640T= | XP_011541272.1:p.Phe214= | |
| XM_011542970.2:c.640T= | XP_011541272.1:p.Phe214= | |
| XR_001748321.1:n.2718-65060A= | ||
| XR_001748322.1:n.2733-65060A= | ||
| NM_000372.5:c.640T= MANE Select | NP_000363.1:p.Phe214= |