Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42763570C= , CM000670.2:g.42763570C= | GRCh38 |
| NC_000008.10:g.42618713C= , CM000670.1:g.42618713C= | GRCh37 |
| NC_000008.9:g.42737870C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004198.3:c.219+1495G= MANE Select | NP_004189.1:n.219+1495G= |
| ENST00000276410.7:c.219+1495G= MANE Select | ENSP00000276410.3:n.219+1495G= |
| NM_001199279.1:c.219+1495G= | NP_001186208.1:n.219+1495G= |
| ENST00000276410.6:c.219+1495G= | ENSP00000276410.2:n.219+1495G= |
| ENST00000530869.1:n.421+1495G= | |
| ENST00000533810.5:c.-19+1495G= | ENSP00000434659.1:n.-19+1495G= |
| ENST00000534622.5:c.219+1495G= | ENSP00000433871.1:n.219+1495G= |