Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780655T= , CM000672.2:g.94780655T= | GRCh38 |
| NC_000010.10:g.96540412T= , CM000672.1:g.96540412T= | GRCh37 |
| NC_000010.9:g.96530402T= | NCBI36 |
| NG_008384.2:g.22950T= | |
| NG_008384.3:g.22975T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.638T= MANE Select | ENSP00000360372.3:p.Ile213= | |
| ENST00000645461.1:n.1691T= | ||
| ENST00000371321.7:c.638T= | ENSP00000360372.3:p.Ile213= | |
| ENST00000464755.1:c.1401T= | ENSP00000483243.1:n.1401T= | |
| NM_000769.2:c.638T= | NP_000760.1:p.Ile213= | |
| NM_000769.4:c.638T= MANE Select | NP_000760.1:p.Ile213= |