Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527320A= , CM000685.2:g.48527320A= | GRCh38 |
| NC_000023.10:g.48385708A= , CM000685.1:g.48385708A= | GRCh37 |
| NC_000023.9:g.48270652A= | NCBI36 |
| NG_007452.1:g.10545A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.469+35A= MANE Select | ENSP00000417052.1:n.469+35A= | |
| ENST00000651615.1:c.469+35A= | ENSP00000498524.1:n.469+35A= | |
| ENST00000276096.10:n.427+35A= | ||
| ENST00000446158.5:c.469+35A= | ENSP00000390031.1:n.469+35A= | |
| ENST00000466461.1:n.343A= | ||
| ENST00000495186.5:c.469+35A= | ENSP00000417052.1:n.469+35A= | |
| ENST00000498425.1:n.590+35A= | ||
| NM_006579.2:c.469+35A= | NP_006570.1:n.469+35A= | |
| NM_006579.3:c.469+35A= MANE Select | NP_006570.1:n.469+35A= |