Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48980693A= , CM000674.2:g.48980693A= | GRCh38 |
| NC_000012.11:g.49374476A= , CM000674.1:g.49374476A= | GRCh37 |
| NC_000012.10:g.47660743A= | NCBI36 |
| NG_033141.1:g.7241A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.624+4A= MANE Select | NP_005421.1:n.624+4A= |
| ENST00000293549.4:c.624+4A= MANE Select | ENSP00000293549.3:n.624+4A= |
| NM_005430.3:c.624+4A= | NP_005421.1:n.624+4A= |
| ENST00000293549.3:c.624+4A= | ENSP00000293549.3:n.624+4A= |
| ENST00000613114.4:c.624+4A= | ENSP00000481240.1:n.624+4A= |