Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584709C= , CM000673.2:g.67584709C= | GRCh38 |
| NC_000011.9:g.67352180C= , CM000673.1:g.67352180C= | GRCh37 |
| NC_000011.8:g.67108756C= | NCBI36 |
| NG_012075.1:g.6115C= , LRG_723:g.6115C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.169C= | ENSP00000381604.1:p.Gln57= | |
| ENST00000398606.10:c.169C= MANE Select | ENSP00000381607.3:p.Gln57= | |
| ENST00000646888.1:c.62C= | ENSP00000494477.1:p.Pro21= | |
| ENST00000398603.5:c.169C= | ENSP00000381604.1:p.Gln57= | |
| ENST00000398606.7:c.169C= | ENSP00000381607.3:p.Gln57= | |
| ENST00000489040.1:n.168C= | ||
| ENST00000494593.1:n.599C= | ||
| ENST00000498765.5:c.132C= | ||
| NM_000852.3:c.169C= , LRG_723t1:c.169C= | NP_000843.1:p.Gln57= | |
| NM_000852.4:c.169C= MANE Select | NP_000843.1:p.Gln57= |