Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14741666C= , CM000667.2:g.14741666C= | GRCh38 |
| NC_000005.9:g.14741775C= , CM000667.1:g.14741775C= | GRCh37 |
| NC_000005.8:g.14794775C= | NCBI36 |
| NG_008273.1:g.135113G= | |
| NG_008273.2:g.135120G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1011+161G= MANE Select | ENSP00000284268.6:n.1011+161G= | |
| ENST00000284268.6:c.1011+161G= | ENSP00000284268.6:n.1011+161G= | |
| ENST00000503939.5:n.523+161G= | ||
| ENST00000515517.1:n.406G= | ||
| NM_054027.4:c.1011+161G= | NP_473368.1:n.1011+161G= | |
| XM_011514067.1:c.1011+161G= | XP_011512369.1:n.1011+161G= | |
| NM_054027.5:c.1011+161G= | NP_473368.1:n.1011+161G= | |
| XM_017009644.2:c.927+161G= | XP_016865133.1:n.927+161G= | |
| NM_054027.6:c.1011+161G= MANE Select | NP_473368.1:n.1011+161G= |