Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832924G= , CM000673.2:g.116832924G= | GRCh38 |
| NC_000011.9:g.116703640G= , CM000673.1:g.116703640G= | GRCh37 |
| NC_000011.8:g.116208850G= | NCBI36 |
| NG_008949.1:g.8017G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000040.3:c.*40G= MANE Select | NP_000031.1:n.*40G= |
| ENST00000227667.8:c.*40G= MANE Select | ENSP00000227667.2:n.*40G= |
| NM_000040.1:c.*40G= | NP_000031.1:n.*40G= |
| NM_000040.2:c.*40G= | NP_000031.1:n.*40G= |
| ENST00000227667.7:c.*40G= | ENSP00000227667.2:n.*40G= |
| ENST00000375345.3:c.*40G= | ENSP00000364494.1:n.*40G= |
| ENST00000630701.1:c.394G= | ENSP00000486182.1:n.394G= |