Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42753436C= , CM000670.2:g.42753436C= | GRCh38 |
| NC_000008.10:g.42608579C= , CM000670.1:g.42608579C= | GRCh37 |
| NC_000008.9:g.42727736C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004198.3:c.1354-126G= MANE Select | NP_004189.1:n.1354-126G= |
| ENST00000276410.7:c.1354-126G= MANE Select | ENSP00000276410.3:n.1354-126G= |
| NM_001199279.1:c.1309-126G= | NP_001186208.1:n.1309-126G= |
| ENST00000276410.6:c.1354-126G= | ENSP00000276410.2:n.1354-126G= |
| ENST00000534622.5:c.1309-126G= | ENSP00000433871.1:n.1309-126G= |