Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780626A= , CM000672.2:g.94780626A= | GRCh38 |
| NC_000010.10:g.96540383A= , CM000672.1:g.96540383A= | GRCh37 |
| NC_000010.9:g.96530373A= | NCBI36 |
| NG_008384.2:g.22921A= | |
| NG_008384.3:g.22946A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.609A= MANE Select | ENSP00000360372.3:p.Glu203= | |
| ENST00000645461.1:n.1662A= | ||
| ENST00000371321.7:c.609A= | ENSP00000360372.3:p.Glu203= | |
| ENST00000464755.1:c.1372A= | ENSP00000483243.1:n.1372A= | |
| NM_000769.2:c.609A= | NP_000760.1:p.Glu203= | |
| NM_000769.4:c.609A= MANE Select | NP_000760.1:p.Glu203= |