Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94849957A= , CM000672.2:g.94849957A= | GRCh38 |
| NC_000010.10:g.96609714A= , CM000672.1:g.96609714A= | GRCh37 |
| NC_000010.9:g.96599704A= | NCBI36 |
| NG_008384.2:g.92252A= | |
| NG_008384.3:g.92277A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1190A= MANE Select | ENSP00000360372.3:p.Asp397= | |
| ENST00000645461.1:n.2101A= | ||
| ENST00000371321.7:c.1190A= | ENSP00000360372.3:p.Asp397= | |
| ENST00000464755.1:c.1953A= | ENSP00000483243.1:n.1953A= | |
| NM_000769.2:c.1190A= | NP_000760.1:p.Asp397= | |
| NM_000769.4:c.1190A= MANE Select | NP_000760.1:p.Asp397= |