Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232934G= , CM000667.2:g.55232934G= | GRCh38 |
| NC_000005.9:g.54528762G= , CM000667.1:g.54528762G= | GRCh37 |
| NC_000005.8:g.54564519G= | NCBI36 |
| NG_034201.1:g.5784C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+209C= MANE Select | ENSP00000282572.4:n.381+209C= | |
| ENST00000282572.4:c.381+209C= | ENSP00000282572.4:n.381+209C= | |
| ENST00000501463.2:c.*194C= | ENSP00000422485.1:n.*194C= | |
| NM_021147.4:c.381+209C= | NP_066970.3:n.381+209C= | |
| NR_125346.1:n.784C= | ||
| NR_125347.1:n.580+204C= | ||
| NR_125348.1:n.58C= | ||
| NM_021147.5:c.381+209C= MANE Select | NP_066970.3:n.381+209C= | |
| NR_125346.2:n.675C= | ||
| NR_125347.2:n.471+204C= |